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    Identification of 1,2-dihydroquinazolin-2-ones kinase inhibitors as anti-coronavirus agents.
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    Comparison of efficiency and specificity of CRISPR-associated (Cas) nucleases in plants: An expanded toolkit for precision genome engineering
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    Why Are You Like This?
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    6. princessserenity 17 Sep 2026
      “How long have I been out this time? You're a lot taller than I remember. And whatever flowy thing is going on with your mane is not working for you.”

      Is it because of magic growth cream, or Interstellar Shine Shampoo?

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    5. Management and Social Well-Being: Meaningful Work, Meaningful Relationships, and Peace
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  27. med.libretexts.org med.libretexts.org
    1.5: Parotidectomy
    1
    1. HoangHiepHMU 17 Sep 2026
      Identify and skeletonize the posterior belly of the digastric muscle. Do not dissect cephalad of the muscle as one may injure the facial nerve (Figure 16)

      Nguyên tắc ở bước này là chỉ bộc lộ thân cơ để làm "biển báo" dẫn đường, sau đó phẫu tích thật thận trọng ở góc giữa nó và mỏm trâm để tìm dây VII, tuyệt đối không xâm lấn lên vùng mô mềm phía trên cơ nếu chưa kiểm soát được dây thần kinh.

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  28. tesda-course.pages.dev tesda-course.pages.dev
    Reference · Instructional blueprints — TESDA Foundational Skills
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    Phyle - Wikipedia
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    char booth (infomational.com)
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    Prosopography - Wikipedia
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  39. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Subretinal Fibrosis in Stargardt's Disease with Fundus Flavimaculatus and ABCA4 Gene Mutation
    1
    1. Vibhor 17 Sep 2026
      Case 3

      Case#: Case 3, Sex: Male, Age:21

      DiseaseAssertion: STGD

      FamilyInfo: n/a

      CasePresentingHPOs:

      CaseHPOFreeText: Text mentions BCVA of 20/200 in both eyes. Pigmentary changes in macula associated with flecks, small inferior juxta-papillar area of subretinal fibrosis in right eye, left eye legion localized in posterior pole macula temporally. Instable fixation in right eye. Low retinal mean sensitivity in both eyes.

      CaseNotHPOs:n/a

      CaseNotHPOFreeText: Healthy ocular adnexa and specular transparent and 'in situ' lens. Visual acuity stable. Stable fixation in left eye.

      Genotyping Method: genetic analysis

      PreviouslyPublished: n/a

      Variant: Variant is a heterozygous mutation given as NM_000350.3(ABCA4):c.3212C>T (p.Ser1071Leu) / NM_000350.3(ABCA4):c.667A>C (p.Lys223Gln) / NM_000350.3(ABCA4):c.3607G>A (p.Gly1203Arg)

      ClinVar: Variation ID: 99208 / Variation ID: 845426/ Variation ID: 417989

      SupplementalData: n/a

      MultipleGeneVariants "Gene:ABCA4" HGNC:34 PMID:3341817 ClinVarID:99208 Zygosity:Heterozygous MacularFlecks DiseaseEntity:STGD1 inferred_gene_hgnc:34 inferred_gene_source:hgnc_tag ClinGen ABCA4 Annotations
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    pmc.ncbi.nlm.nih.gov/articles/PMC3551412/
  40. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC6076228/
  41. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Clinical and genetic investigations of three Moroccan families with retinitis pigmentosa phenotypes
    1
    1. Vibhor 17 Sep 2026
      Case 3: RP3.03

      Case#: RP3.03, 23yo, 21yo on set, Moroccan

      DiseaseAssertion: Retinitis Pigmentosa (RP19)

      FamilyInfo: Born into a consanguineous family, parents are unaffected, has five unaffected siblings

      CasePresentingHPOs: HP:0000505, HP:0007675, HP:0001133, HP:0007994, HP:0007843, HP:0000510, HP:0000580, HP:0007703

      CaseHPOFreeText: Abnormal epiretinal membrane formation, Altered ERG traces, rod and cone photoreceptor dysfunctions, hyper fuorescence ring surrounding macula and peripheral retina, absence of cystic spaces

      CaseNotHPOs: HP:0000551

      CaseNotHPOFreeText: Central vision loss

      Genotyping Method: Genomic DNA was extracted using QIAamp DND Blood Mini Kit, DNA underwent WES by BGI Tech Solutions, DNA was captured by MGIEasy Exome Capture V4 Probe Set, then Alligned using the Burrows-Wheeler Aligner and HaplotypeCaller of GAWK

      PreviouslyPublished: CRB1, PDE6B

      Variant: c.5908C>T, c.6148G>C

      ClinVar: 7892, 7884

      SupplementalData: Clinical data (table 1, figure 5), Genetic analysis (table 2), Patient Pedigree (figure 1.)

      Gene:ABCA4 HGNC:34 InheritancePattern:AutosomalRecessive DiseaseEntity:RP19 AlleleOrigin:Somatic Zygosity:CompoundHeterozygous MultipleGeneVariants FundusAutofluorescence NightBlindness DecreasedERGResponses PigmentaryRetinopathyAttenuatedVessels DecreasedPeripheralVision inferred_gene_hgnc:34 inferred_gene_source:hgnc_tag ClinGen ABCA4 Annotations
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    pmc.ncbi.nlm.nih.gov/articles/PMC7883928/
  42. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Novel mutations in c2orf71 causing an early onset form of cone-rod dystrophy: A molecular diagnosis after 20 years of clinical follow-up
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC6887784/
  43. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Expansion of the ABCA4-Associated Retinopathy Spectrum: Severe Variants Can be Associated With Early-Onset Severe Retinal Dystrophy
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC12147048/
  44. www-sciencedirect-com.libproxy.lib.unc.edu www-sciencedirect-com.libproxy.lib.unc.edu
    Molecular genetics of cone-rod dystrophy in Chinese patients: New data from 61 probands and mutation overview of 163 probands
    1
    1. Vibhor 17 Sep 2026
      ABCA4ARc.[1957C > T];[4605insT]WESHuang et al., 2013cHuang et al., 2013c, Rivera et al., 2000

      Case#: QT959, Chinese

      DiseaseAssertion: Cone-rod dystrophy

      FamilyInfo: no pedigree provided for this family in this paper

      CasePresentingHPOs:

      CaseHPOFreeText:

      CaseNotHPOs:

      CaseNotHPOFreeText:

      PreviouslyPublished: 23776498-more phenotype information available there

      Variant: c.[1957C > T];[4605insT] on WES

      ClinVar: n/a

      CAID: CA645372205

      SupplementalData: n/a

      CA645372205 CaseInfo Individual PreviouslyPublished inferred_gene_hgnc:34 inferred_gene_source:CAID ClinGen ABCA4 Annotations
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  45. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Modification of the PROM1 Disease Phenotype by a Mutation in ABCA4
    1
    1. Vibhor 17 Sep 2026
      The proband

      Case#: 34 y.o female proband, caucasian(German), diagnosed with Stargardt, late onset.

      DiseaseAssertion: STGD

      FamilyInfo: Unaffected father, mother exhibiting retinal disease. Biparental history of glaucoma and AMD, pattern dystrophy on maternal side.

      CasePresentingHPOs:HP:0001129, HP:0007722 ,HP:0007663, HP:0030329, HP:0007814, HP:0000608

      CaseHPOFreeText: Proband exhibits retinal thinning in all retinal layers, alongside chorioretinal atrophy. Experienced increased central vision loss over the course of a decade. At time of study, diagnosed with Stargardt disease. Visual acuity 20/200 in right eye and 20/40 in left. Additionally found granular molting of retinal pigment epithilium.

      CaseNotHPOs:n/a

      CaseNotHPOFreeText:n/a

      Genotyping Method: WES and variant calling performed at Columbia Institute for Genomic Medicine.

      PreviouslyPublished:n/a

      Variant: rs61751407, c.5714+5G>A

      ClinVar: 432057

      CAID: n/a

      SupplementalData: n/a

      inferred_gene_hgnc:34 inferred_gene_source:rsID ClinGen ABCA4 Annotations
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    pmc.ncbi.nlm.nih.gov/articles/PMC6777736/pdf/nihms-1540069.pdf
  46. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort—Impact of Selected Deep Intronic Variants and Common SNPs
    1
    1. Vibhor 17 Sep 2026
      We found statistically significant association for six variations (c.1268A>G, c.4203C>A, c.5603A>T, c.5682G>C, c.5843C>T, c.6249C>T) (FDR < 0.05, Supplementary Table S4)

      This paper is listed under the ClinVar citations for this variant, but only as a paper that references other variants in the initiator codon that have been observed in individuals with ABCA4-related conditions. The actual initiator variant included in this paper is c.1A>G

      NoEvidence 280328 CA10602781 SupplementalTable inferred_gene_hgnc:34 inferred_gene_source:CAID ClinGen ABCA4 Annotations
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    ncbi.nlm.nih.gov/pmc/articles/PMC5270621/
  47. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severity
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC8948157/
  48. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Superotemporal predisposition to traumatic subretinal fibrosis in Stargardt disease: A case report
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC11799953/
  49. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Postmortem Retinal Structural and Metabolic Analysis After Human Embryonic Stem Cell–derived Retinal Pigment Epithelium Transplantation in a Patient With Stargardt Disease
    1
    1. Vibhor 17 Sep 2026
      Postmortem Retinal Structural and Metabolic Analysis After Human Embryonic Stem Cell–derived Retinal Pigment Epithelium Transplantation in a Patient With Stargardt Disease

      PCMID:*PMC12657203

      PMID41323838

      Gene: ABCA4

      HGNC ID: 34

      Case#:80 year old man,

      DiseaseAssertion:NA

      FamilyInfo:NA

      CasePresentingHPOs:NA

      CaseHPOFreeText:Diagnosed w/ targardt disease at the age of 18 years, medical retierment at 64 as result

      CaseNotHPOs:*parkinsons at 80

      CaseNotHPOFreeText:NA

      Genotyping Method:NA

      PreviouslyPublished:NA

      Variant:after gentic testing (unspecified) a pathogenic heterozygous mutation (G1961E) in ABCA4 gene a substiution, GAA) at amino acid position 1961, or c.5882 G>A at the complementary DNA level, or pGly1961Glu or G1961E at the protein level. No second mutation was identified. One of his 2 sisters had the same mutation.

      ClinVar:NA

      CAID:NA

      SupplementalData:this goes into how eye retina transplant results and outcomes.

      CaseInfo individual PostMortum inferred_gene_hgnc:34 inferred_gene_source:HGNC_body ClinGen ABCA4 Annotations
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    pmc.ncbi.nlm.nih.gov/articles/PMC12657203/
  50. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Homozygous mutation in ABCA4 associated with cone rod dystrophy in a patient with Turner syndrome
    1
    1. Vibhor 17 Sep 2026
      a 12-year-old female

      Case#: a 12-year-old female admitted to the B Department Hédi Raies institut of Ophtalmology in Tunis, Tunisia

      DiseaseAssertion: Cone rod dystrophy

      FamilyInfo: No parental consanguinity nor pathological or opthalmological history in the family

      CasePresentingHPOs: HP:0000529, HP:0000662, HP:0001141, HP:0000543,HP:0007737, HP:0030602

      CaseHPOFreeText: progressive visual loss, poor night vision, 1/20 visual acuity in both eyes, pallor of the optic disk, attenuated retinal vessels, paravascular bone spiculed pigmentations and an epimacular membrane, paravascular and macular heterogeneous hypoautofluorescence, diffuse alteration of ellipsoid zone, decreased photopic and scotopic responses.

      CaseNotHPOs: NR

      CaseNotHPOFreeText: NR

      Genotyping Method: Whole exome sequencing, Sanger sequencing

      PreviouslyPublished: NR

      Variant: c.885delC, NM_000350.3

      ClinVar: 438109

      CAID: CA958684

      SupplementalData: Karyotyping showed monosomy 45,X in the patient

      InheritancePattern:AutosomalRecessive Zygosity:Homozygous DiseaseEntity:Cone-rod-dystrophy Mutation:Deletion CAID:CA958684 inferred_gene_hgnc:34 inferred_gene_source:CAID ClinGen ABCA4 Annotations
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    pmc.ncbi.nlm.nih.gov/articles/PMC8715792/
  51. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes
    1
    1. Vibhor 17 Sep 2026
      The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes

      PMID: 28600779

      Gene: ABCA4

      HGNCID: HGNC:34

      MonDO:

      Case: 16N-0520, Male, Saudi Arabia, 1 yo

      DiseaseAssertion:

      FamilyInfo: Consanguineous parents, positive family history

      CasePresentingHPOs: HP:0000618, HP:0000648 (Blindness, Optic atrophy)

      CaseHPOFreeText: Coloboma of eye

      GenotypingMethod: WES, analysis of Vision Panel, constituent genes are described in PMID 26112015.

      SupplementalData: Supplemental table

      Variant: ABCA4:NM_000350:exon49:c.6764G>T:p.S2255I

      CAID: CA202970

      gnomAD: 0.4845 (gnomAD v4.0.0, Grpmax Filtered AF African/African-American) https://gnomad.broadinstitute.org/variant/1-93996161-C-A?dataset=gnomad_r4

      VariantEvidence: Authors classified as VOUS. But later downgraded to LB in PMID 31130284.

      General Gene:ABCA4 Individual HGNC:34 CAID:CA202970 inferred_gene_hgnc:34 inferred_gene_source:hgnc_tag ClinGen ABCA4 Annotations
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    ncbi.nlm.nih.gov/pmc/articles/PMC5502059/
  52. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration
    1
    1. Vibhor 17 Sep 2026
      The study cohort consisted of 643 individuals of (mostly Eastern) European descent. Of these, 2 ABCA4 mutations were identified in 437 cases (68%), 1 mutation in 117 cases (18%) and 0 mutations in 89 cases (14%) (see online supplementary table 1), leaving ~23% of disease-associated alleles in 32% of patients yet to be identified. Almost all patients with no ABCA4 mutations and ~50% of patients with 1 mutation have been screened by whole exome sequencing to determine if variants in other genes were causal in these cases. All cases, where disease-associated variants in other genes were detected, were excluded from this cohort.

      Case#: Case #3483, likely European, 10yo at onset

      DiseaseAssertion: ABCA4 disease

      FamilyInfo: n/a

      CasePresentingHPOs:

      CaseHPOFreeText:

      CaseNotHPOs:

      CaseNotHPOFreeText: foveal sparing

      GenotypingMethod: NGS, Sanger

      PreviouslyPublished: n/a

      Variant: c.2453G>A (p.Gly818Glu); c.4462T>C (p.Cys1488Arg)

      ClinVar: 99135

      CAID: CA227000

      SupplementalData: supplemental table 1

      CA227000 ClinVarID: 99135 CaseInfo Individual SupplementalTable inferred_gene_hgnc:34 inferred_gene_source:CAID ClinGen ABCA4 Annotations
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    ncbi.nlm.nih.gov/pmc/articles/PMC5786429/
  53. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    A Comprehensive Survey of Sequence Variation in the ABCA4 (ABCR) Gene in Stargardt Disease and Age-Related Macular Degeneration
    1
    1. Vibhor 17 Sep 2026
      STGD47/164 IVS13+1G→A 2588G→C Yes

      Case#: STGD47/164, 10-14yo at onset, German

      DiseaseAssertion: STGD

      FamilyInfo: segregation in family

      CasePresentingHPOs:

      CaseHPOFreeText: "The diagnosis of STGD was based on the demonstration of bilateral impairment of central vision and the appearance of perimacular and/or peripheral yellow-white flecks, with or without atrophy of the central retinal-pigment epithelium and a normal or only mildly abnormal flash electroretinogram when recorded in early stages of the disease."

      CaseNotHPOs:

      CaseNotHPOFreeText:

      GenotypingMethod: denaturing gradient gel electrophoresis, dHPLC, and SSCP analysis, PCR amplification of individual coding exons and flanking intron sequences, direct DNA sequencing

      PreviouslyPublished: n/a

      Variant: IVS13+1G→A; 2588G→C in trans "Correct segregation of disease alleles was demonstrated in all 39 cases in which family samples were available for study"

      ClinVar: 7879

      CAID: CA119128

      SupplementalData: n/a

      CaseInfo Individual ClinVarID:7879 CAID:CA119128 inferred_gene_hgnc:34 inferred_gene_source:CAID ClinGen ABCA4 Annotations
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    pmc.ncbi.nlm.nih.gov/articles/PMC1287885/
  54. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Functional Relevance and Structural Correlates of Near Infrared and Short Wavelength Fundus Autofluorescence Imaging in ABCA4-Related Retinopathy
    1
    1. Vibhor 17 Sep 2026
      A total of 88 eyes of 44 patients (32 female [73%]) with a mean age at examination of 37.6 ± 2.5 years (±SEM; range, 9–77 years) were included in this study (Table 1, Supplementary Table S1). Forty-one patients were found to have two disease-causing mutations. Three patients had only one disease-causing mutation but showed a phenotype consistent with ABCA4-related retinopathy.

      Case#: Patients #33 and 34, female, 63 and 61yo at report, respectively, German

      DiseaseAssertion: ABCA4-related retinopathy

      FamilyInfo: n/a but they could be related

      CasePresentingHPOs:

      CaseHPOFreeText: "Inclusion criteria comprised the presence of at least one disease-causing mutation in ABCA4 and a phenotype consistent with ABCA4-related retinopathy, including RPE atrophy and flecks." BCVA [LogMAR] for patient #33: OD= 0.4, OS= 0.1. BCVA [LogMAR] for patient #34: OD= 1.5, OS= 1.0. Reduced (over 2 SD) photopic B-wave and 30-Hz flicker amplitudes

      CaseNotHPOs:

      CaseNotHPOFreeText: Insufficient pupil dilation, additional retinal pathology, previous vitreoretinal surgery, or other ocular comorbidities substantially affecting visual function (e.g., significant media opacity, amblyopia, or optic nerve disease) led to exclusion. Abnormal responses on scotopic and photopic full-field ERG

      GenotypingMethod:

      PreviouslyPublished: likely the same patients as other Muller papers in this curation

      Variant: c.3468C>G p.(Tyr1156*) and c.5059A>T p.(Ile1687Phe)

      ClinVar: n/a

      CAID: CA341290648

      SupplementalData: Table S1 has genotype/phenotype info for probands

      CaseInfo Individual CA341290648 inferred_gene_hgnc:34 inferred_gene_source:CAID ClinGen ABCA4 Annotations
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    ncbi.nlm.nih.gov/pmc/articles/PMC6927733/
  55. www-sciencedirect-com.libproxy.lib.unc.edu www-sciencedirect-com.libproxy.lib.unc.edu
    ABCA4 mutational spectrum in Mexican patients with Stargardt disease: Identification of 12 novel mutations and evidence of a founder effect for the common p.A1773V mutation
    1
    1. Vibhor 17 Sep 2026
      1545c.6221G>Tp.G2074V (D; N)16c.2453G>Ap.G818E (D)Compound heterozygous

      Case#: Sporadic Case #15, Mexican

      DiseaseAssertion: Stargardt

      FamilyInfo: n/a

      CasePresentingHPOs:

      CaseHPOFreeText: STGD diagnosis based on: "onset of symptoms in childhood or early adulthood (before 20 years of age), bilateral central vision loss (central and peripheral visual field computerized testing), a retinal “beaten-bronze” foveal appearance and/or yellow-whitish flecks from the posterior pole to the mid periphery, normal caliber of the retinal vessels, no pigmented bone spicules in the retinal periphery, a normal to subnormal electroretinogram, and a typical dark choroid in fluorescein angiography."

      CaseNotHPOs:

      CaseNotHPOFreeText:

      PreviouslyPublished: n/a

      Variant: allele 1: c.6221G>T (p.G2074V) allele 2: c.2453G>A (p. G818E); direct sequencing of exons of ABCA4

      ClinVar: 99135

      CAID: CA227000

      SupplementalData: n/a

      CA227000 ClinVarID: 99135 CaseInfo Individual inferred_gene_hgnc:34 inferred_gene_source:CAID ClinGen ABCA4 Annotations
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    www-sciencedirect-com.libproxy.lib.unc.edu/science/article/pii/S0014483513000420
  56. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    From Clinical Diagnosis to the Discovery of Multigene Rare Sequence Variants in Pseudoxanthoma elasticum: A Case Report
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC8427021/
  57. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Comprehensive analysis of Stargardt macular dystrophy patients reveals new genotype-phenotype correlations and unexpected diagnostic revisions
    1
    1. Vibhor 17 Sep 2026
      STGD in 48 patients (55%) was explained by recessive ABCA4 mutations (supplemental table S2). Only 22 patients could be solved using previously known STGD causing mutations. However, we identified 35 novel mutations in ABCA4 contributing to the diagnosis of 25 STGD patients. This contained 10 novel mutations leading to amino acid substitutions already known to cause disease and mutations known to cause diseases other than STGD. In addition, we identified 13 novel nonsense mutations. The remaining 12 novel mutations are well justified, and novel mutations were either completely absent or extremely rare in controls.

      Case#: Patient #9, Canadian

      DiseaseAssertion: Stargardt

      FamilyInfo: n/a

      CasePresentingHPOs: "Clinical diagnosis of STGD was made when the patient, usually a child, developed central visual acuity loss with an atrophic maculopathy with or without flecks." No individual details

      CaseHPOFreeText: n/a

      CaseNotHPOs: n/a

      CaseNotHPOFreeText: n/a

      PreviouslyPublished: n/a

      Variant: c.6383 A>G p.(H2128R); c.785 G>A p.(G1961E)

      ClinVar: 99455

      CAID: CA227399

      SupplementalData: info found in table S2

      CA227399 ClinVarID: 99455 CaseInfo Individual SupplementalTable inferred_gene_hgnc:34 inferred_gene_source:CAID ClinGen ABCA4 Annotations
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    ncbi.nlm.nih.gov/pmc/articles/PMC4385427/
  58. www.nature.com www.nature.com
    Biochemical defects in ABCR protein variants associated with human retinopathies
    1
    1. Vibhor 17 Sep 2026
      Figure 3: Protein yield and ATP-binding capacity of 37 naturally occurring ABCR variants produced in transiently transfected 293 cells.Membranes were analysed by immunoblotting with affinity-purified anti-ABCR antibodies (top) and photoaffinity labelling with α-32P azido-ATP (bottom). We loaded 1 μg (immunoblotting) or 2.5 μg (azido-ATP labelling) of total membrane protein, as determined by Bradford assay, per track. The mutations that reside in NBD-1 and NBD-2 are indicated above the corresponding lanes. The relative levels of the different variant proteins and the extent of azido-ATP labelling were observed to be highly reproducible in multiple independent experiments. ABCR (large arrowhead); an endogenous 55-kD protein (small arrowhead) serves as an internal control for azido-ATP labelling. Molecular mass standards are shown on the left in kD.

      This variant was transfected into HEK 293 cells and appears to show reduced expression and ATP-binding capacity, but no quantities were provided

      ExperimentalAssay CA227000 ClinVarID: 99135 inferred_gene_hgnc:34 inferred_gene_source:CAID ClinGen ABCA4 Annotations
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    nature.com/articles/ng1000_242
  59. imx.to imx.to
    IMX.to / 016 Erica Campbell - Up Close and Personal Pt01 GIFs.gif
    1
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    imx.to/i/75qd0o