63 Matching Annotations
  1. Aug 2024
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Deciphering cancer genomes with GenomeSpy: a grammar-based visualization toolkit
    1
    1. scibot 19 Aug 2024
      RRID:SCR_012821

      DOI: 10.1093/gigascience/giae040

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    ncbi.nlm.nih.gov/pmc/articles/PMC11299109/
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A trade-off in evolution: the adaptive landscape of spiders without venom glands
    1
    1. scibot 19 Aug 2024
      RRID:SCR_012821

      DOI: 10.1093/gigascience/giae048

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    ncbi.nlm.nih.gov/pmc/articles/PMC11299198/
  4. Jul 2024
  5. www.cell.com www.cell.com
    Further evidence from DNAH12 supports favorable fertility outcomes of infertile males with dynein axonemal heavy chain gene family variants
    1
    1. scibot 23 Jul 2024
      RRID:SCR_012821

      DOI: 10.1016/j.isci.2024.110366

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    cell.com/iscience/abstract/S2589-0042(24)01591-8
  6. May 2024
  7. aacrjournals.org aacrjournals.org
    Integrative molecular analyses of the MD Anderson prostate cancer patient-derived xenograft (MDA PCa PDX) series
    1
    1. scibot 17 May 2024
      RRID:SCR_012821

      DOI: 10.1158/1078-0432.CCR-23-2438

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    aacrjournals.org/clincancerres/article/30/10/2272/745168/Integrative-Molecular-Analyses-of-the-MD-Anderson
  8. www.sciencedirect.com www.sciencedirect.com
    Integrative molecular and spatial analysis reveals evolutionary dynamics and tumor-immune interplay of in situ and invasive acral melanoma
    1
    1. scibot 17 May 2024
      RRID:SCR_012821

      DOI: 10.1016/j.ccell.2024.04.012

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    sciencedirect.com/science/article/pii/S1535610824001363
  9. Mar 2024
  10. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A novel type of monocytic leukemia stem cell revealed by the clinical use of venetoclax-based therapy
    1
    1. scibot 06 Mar 2024
      RRID:SCR_012821

      DOI: 10.1158/2159-8290.CD-22-1297

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    ncbi.nlm.nih.gov/pmc/articles/PMC10527971/
  11. Jan 2024
  12. www.sciencedirect.com www.sciencedirect.com
    Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy
    1
    1. scibot 25 Jan 2024
      RRID:SCR_012821

      DOI: 10.1016/j.xcrm.2023.101383

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    sciencedirect.com/science/article/pii/S2666379123006122
  13. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Multi-ancestry genome-wide association meta-analysis of Parkinson’s disease
    1
    1. scibot 07 Jan 2024
      RRID:SCR_012821

      DOI: 10.1038/s41588-023-01584-8

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    ncbi.nlm.nih.gov/pmc/articles/PMC10786718/
  14. Dec 2023
  15. www.sciencedirect.com www.sciencedirect.com
    Integrated multi-omics profiling to dissect the spatiotemporal evolution of metastatic hepatocellular carcinoma
    1
    1. scibot 16 Dec 2023
      RRID:SCR_012821

      DOI: 10.1016/j.ccell.2023.11.010

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    sciencedirect.com/science/article/pii/S1535610823004014
  16. link.springer.com link.springer.com
    Managing genomic diversity in conservation programs of Chinese domestic chickens
    1
    1. scibot 16 Dec 2023
      RRID:SCR_012821

      DOI: 10.1186/s12711-023-00866-3

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    link.springer.com/article/10.1186/s12711-023-00866-3
  17. 52.53.155.43 52.53.155.43
    physiolgenomics.00070.2023-html.html
    1
    1. scibot 01 Dec 2023
      RRID:SCR_012821

      DOI: 10.6084/m9.figshare.23598732.v4

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    52.53.155.43/37a553f0bc437dc481c95fcb3601b715ab4e52f5/physiolgenomics.00070.2023-html.html
  18. journals.physiology.org journals.physiology.org
    Single-cell reconstruction and mutation enrichment analysis identifies dysregulated cardiomyocyte and endothelial cells in congenital heart disease
    1
    1. scibot 01 Dec 2023
      RRID:SCR_012821

      DOI: 10.1152/physiolgenomics.00070.2023

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    journals.physiology.org/doi/10.1152/physiolgenomics.00070.2023
  19. Oct 2023
  20. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Immune checkpoint inhibitor-related molecular markers predict prognosis in extrahepatic cholangiocarcinoma
    1
    1. scibot 13 Oct 2023
      RRID:SCR_012821

      DOI: 10.1002/cam4.6441

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    onlinelibrary.wiley.com/doi/10.1002/cam4.6441
  21. www.sciencedirect.com www.sciencedirect.com
    Individualized tumor-informed circulating tumor DNA analysis for postoperative monitoring of non-small cell lung cancer
    1
    1. scibot 06 Oct 2023
      RRID:SCR_012821

      DOI: 10.1016/j.ccell.2023.08.010

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    sciencedirect.com/science/article/pii/S1535610823002866
  22. Aug 2023
  23. 52.53.155.43 52.53.155.43
    Molecular and clonal evolution in vivo reveal a common pathway of distant relapse gliomas
    1
    1. scibot 12 Aug 2023
      RRID:SCR_012821

      DOI: 10.1016/j.isci.2023.107528

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    52.53.155.43/7a8c6a26be7c0ab8d087dcd799997f08730bdcd3/PIIS258900422301605X-html.html
  24. www.sciencedirect.com www.sciencedirect.com
    Early clonal extinction in glioblastoma progression revealed by genetic barcoding
    1
    1. scibot 04 Aug 2023
      RRID:SCR_012821

      DOI: 10.1016/j.ccell.2023.07.001

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    sciencedirect.com/science/article/pii/S1535610823002416
  25. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Clinical features associated with outcomes and biomarker analysis of dabrafenib plus trametinib treatment in patients with BRAF-mutant melanoma brain metastases
    1
    1. scibot 02 Aug 2023
      RRID:SCR_012821

      DOI: 10.1158/1078-0432.CCR-22-2581

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    ncbi.nlm.nih.gov/pmc/articles/PMC9898142/
  26. Jun 2023
  27. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A platform for efficient establishment and drug-response profiling of high-grade serous ovarian cancer organoids
    1
    1. scibot 22 Jun 2023
      RRID:SCR_012821

      DOI: 10.1016/j.devcel.2023.04.012

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    ncbi.nlm.nih.gov/pmc/articles/PMC10281085/
  28. Mar 2023
  29. www.sciencedirect.com www.sciencedirect.com
    Nicotinamide riboside supplementation is not associated with altered methylation homeostasis in Parkinson’s disease
    1
    1. scibot 11 Mar 2023
      RRID:SCR_012821

      DOI: 10.1016/j.isci.2023.106278

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    sciencedirect.com/science/article/pii/S2589004223003553
  30. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    The first Antechinus reference genome provides a resource for investigating the genetic basis of semelparity and age-related neuropathologies
    1
    1. scibot 02 Mar 2023
      RRID:SCR_012821

      DOI: 10.46471/gigabyte.7

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    ncbi.nlm.nih.gov/pmc/articles/PMC9631953/
  31. Feb 2023
  32. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Comprehensive genomic profiling of upper tract urothelial carcinoma and urothelial carcinoma of the bladder identifies distinct molecular characterizations with potential implications for targeted therapy & immunotherapy
    1
    1. scibot 23 Feb 2023
      SCR_012821

      DOI: 10.3389/fimmu.2022.1097730

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    ncbi.nlm.nih.gov/pmc/articles/PMC9936149/
  33. Jan 2023
  34. www.nature.com www.nature.com
    Germline rare deleterious variant load alters cancer risk, age of onset and tumor characteristics
    1
    1. scibot 31 Jan 2023
      RRID:SCR_012821

      DOI: 10.1038/s41698-023-00354-3

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    nature.com/articles/s41698-023-00354-3
  35. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A Phase II Trial of the Bruton Tyrosine-Kinase Inhibitor Zanubrutinib (BGB-3111) in Patients with Relapsed/Refractory Waldenström Macroglobulinemia
    1
    1. scibot 12 Jan 2023
      RRID:SCR_012821

      DOI: 10.1158/1078-0432.CCR-21-0539

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    ncbi.nlm.nih.gov/pmc/articles/PMC9401548/
  36. Dec 2022
  37. www.sciencedirect.com www.sciencedirect.com
    Protocol to analyze population structure and migration history based on human genome variation data
    1
    1. scibot 18 Dec 2022
      RRID:SCR_012821

      DOI: 10.1016/j.xpro.2022.101928

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    sciencedirect.com/science/article/pii/S2666166722008085
  38. 52.53.155.43 52.53.155.43
    can-22-1038-html.html
    1
    1. scibot 01 Dec 2022
      RRID:SCR_012821

      DOI: 10.1158/0008-5472.CAN-22-1038

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    52.53.155.43/284a7c971636d61f144057db0e45ff2a172b27ef/can-22-1038-html.html
  39. Sep 2022
  40. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Genetic Diversity and Selective Signature in Dabieshan Cattle Revealed by Whole-Genome Resequencing
    1
    1. scibot 24 Sep 2022
      RRID:SCR_012821

      DOI: 10.3390/biology11091327

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    ncbi.nlm.nih.gov/pmc/articles/PMC9495734/
  41. Aug 2022
  42. 52.53.155.43 52.53.155.43
    ccr-22-0391-html.html
    1
    1. scibot 27 Aug 2022
      RRID:SCR_012821

      DOI: 10.1158/1078-0432.CCR-22-0391

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    52.53.155.43/c08a4046177ce3f856e78888ccc3cb92ddb344fb/ccr-22-0391-html.html
  43. Jul 2022
  44. www.sciencedirect.com www.sciencedirect.com
    Spatiotemporal genomic analysis reveals distinct molecular features in recurrent stage I non-small cell lung cancers
    1
    1. scibot 13 Jul 2022
      RRID:SCR_012821

      DOI: 10.1016/j.celrep.2022.111047

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    sciencedirect.com/science/article/pii/S2211124722008415
  45. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Novel RSPH4A Variants Associated With Primary Ciliary Dyskinesia–Related Infertility in Three Chinese Families
    1
    1. scibot 09 Jul 2022
      RRID:SCR_012821

      DOI: 10.3389/fgene.2022.922287

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    ncbi.nlm.nih.gov/pmc/articles/PMC9257073/
  46. May 2022
  47. aacrjournals.org aacrjournals.org
    Single cell characterization of the cellular landscape of acral melanoma identifies novel targets for immunotherapy
    1
    1. scibot 19 May 2022
      RRID:SCR_012821

      DOI: 10.1158/1078-0432.CCR-21-3145

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    aacrjournals.org/clincancerres/article/28/10/2131/694823/Single-cell-Characterization-of-the-Cellular
  48. www.nature.com www.nature.com
    Mutational signature profiling classifies subtypes of clinically different mismatch-repair-deficient tumours with a differential immunogenic response potential
    1
    1. scibot 05 May 2022
      RRID:SCR_012821

      DOI: 10.1038/s41416-022-01754-1

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    nature.com/articles/s41416-022-01754-1
  49. aacrjournals.org aacrjournals.org
    A Phenogenetic Axis that Modulates Clinical Manifestation and Predicts Treatment Outcome in Primary Myeloid NeoplasmsLandscape of Myeloid Neoplasms in a Chinese Cohort
    1
    1. scibot 05 May 2022
      RRID:SCR_012821

      DOI: 10.1158/2767-9764.CRC-21-0194

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    aacrjournals.org/cancerrescommun/article/2/4/258/694752/A-Phenogenetic-Axis-that-Modulates-Clinical
  50. Apr 2022
  51. jeccr.biomedcentral.com jeccr.biomedcentral.com
    Growth factor independence underpins a paroxysmal, aggressive Wnt5aHigh/EphA2Low phenotype in glioblastoma stem cells, conducive to experimental combinatorial therapy
    1
    1. scibot 14 Apr 2022
      RRID:SCR_012821

      DOI: 10.1186/s13046-022-02333-1

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    jeccr.biomedcentral.com/articles/10.1186/s13046-022-02333-1/tables/2
  52. www.sciencedirect.com www.sciencedirect.com
    Uncompensated mitochondrial oxidative stress underlies heart failure in an iPSC-derived model of congenital heart disease
    1
    1. scibot 08 Apr 2022
      RRID:SCR_012821

      DOI: 10.1016/j.stem.2022.03.003

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    sciencedirect.com/science/article/pii/S1934590922001011
  53. www.sciencedirect.com www.sciencedirect.com
    A chromosome-level genome of the human blood fluke Schistosoma japonicum identifies the genomic basis of host-switching
    1
    1. scibot 07 Apr 2022
      RRID:SCR_012821

      DOI: 10.1016/j.celrep.2022.110638

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    sciencedirect.com/science/article/pii/S2211124722003904
  54. Mar 2022
  55. academic.oup.com academic.oup.com
    Contribution of clinical and genetic approaches for diagnosing 209 index cases with 46,XY Differences of Sex Development
    1
    1. scibot 08 Mar 2022
      RRID:SCR_012821

      DOI: 10.1210/clinem/dgac064

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    academic.oup.com/jcem/advance-article/doi/10.1210/clinem/dgac064/6521524
  56. Feb 2022
  57. www.sciencedirect.com www.sciencedirect.com
    Genetic resiliency associated with dominant lethal TPM1 mutation causing atrial septal defect with high heritability
    1
    1. scibot 16 Feb 2022
      RRID:SCR_012821

      DOI: 10.1016/j.xcrm.2021.100501

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    sciencedirect.com/science/article/pii/S2666379121003785
  58. Jan 2022
  59. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Novel variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability in Iranian consanguineous families
    1
    1. scibot 22 Jan 2022
      SCR_012821

      DOI: 10.1002/jcla.24241

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    onlinelibrary.wiley.com/doi/full/10.1002/jcla.24241
  60. Aug 2021
  61. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Untitled document
    1
    1. scibot 12 Aug 2021
      RRID:SCR_012821

      DOI: 10.1093/gigascience/gix067

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  62. academic.oup.com academic.oup.com
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      DOI: 10.1093/gigascience/gix067

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  63. Jul 2021
  64. elifesciences.org elifesciences.org
    FAK activity sustains intrinsic and acquired ovarian cancer resistance to platinum chemotherapy
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    1. scibot 30 Jul 2021
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      DOI: 10.7554/eLife.47327

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  65. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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      DOI: 10.1093/gigascience/giy035

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  66. Jun 2021
  67. elifesciences.org elifesciences.org
    SORBS2 is a genetic factor contributing to cardiac malformation of 4q deletion syndrome patients
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    1. scibot 11 Jun 2021
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      DOI: 10.7554/eLife.67481

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  68. Apr 2021
  69. www.sciencedirect.com www.sciencedirect.com
    Functional interrogation of DNA damage response variants with base editing screens
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    1. scibot 12 Apr 2021
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      DOI: 10.1016/j.cell.2021.01.041

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  70. Feb 2021
  71. www.sciencedirect.com www.sciencedirect.com
    Single-cell landscape of the ecosystem in early-relapse hepatocellular carcinoma
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    1. scibot 27 Feb 2021
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      DOI: 10.1016/j.cell.2020.11.041

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    sciencedirect.com/science/article/pii/S0092867420316135
  72. Jan 2021
  73. academic.oup.com academic.oup.com
    Genome diversity in Ukraine
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    1. scibot 22 Jan 2021
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      DOI: 10.1093/gigascience/giaa159

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    academic.oup.com/gigascience/article/10/1/giaa159/6079618
  74. Oct 2020
  75. academic.oup.com academic.oup.com
    DNA Methylation Profiling and Genomic Analysis in 20 Children with Short Stature Who Were Born Small for Gestational Age
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    1. scibot 29 Oct 2020
      RRID:SCR_012821

      DOI: 10.1210/clinem/dgaa465

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  76. Sep 2020
  77. onlinelibrary.wiley.com onlinelibrary.wiley.com
    A novel composition of two heterozygous GFM1 mutations in a Chinese child with epilepsy and mental retardation
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      RRID:SCR_012821

      DOI: 10.1002/brb3.1791

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    onlinelibrary.wiley.com/doi/10.1002/brb3.1791
  78. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Novel and de novo point and large microdeletion mutation in PRRT2‐related epilepsy
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    1. scibot 17 Sep 2020
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      DOI: 10.1002/brb3.1597

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  79. Jan 2020
  80. www.sciencedirect.com www.sciencedirect.com
    A Patient-Derived Glioblastoma Organoid Model and Biobank Recapitulates Inter- and Intra-tumoral Heterogeneity
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    1. scibot 13 Jan 2020
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      DOI: 10.1016/j.cell.2019.11.036

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    sciencedirect.com/science/article/pii/S0092867419313212
  81. www.sciencedirect.com www.sciencedirect.com
    Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks
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    1. scibot 13 Jan 2020
      RRID:SCR_012821

      DOI: 10.1016/j.cell.2019.07.015

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    sciencedirect.com/science/article/pii/S0092867419307809
  82. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Novel and de novo mutation of PCDH19 in Girls Clustering Epilepsy
    1
    1. scibot 13 Jan 2020
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      DOI: 10.1002/brb3.1455

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  83. Nov 2018
  84. academic.oup.com academic.oup.com
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  85. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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    ncbi.nlm.nih.gov/pmc/articles/PMC6143732/
  86. www.sciencedirect.com www.sciencedirect.com
    Biallelic Mutations in MYORG Cause Autosomal Recessive Primary Familial Brain Calcification
    1
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    sciencedirect.com/science/article/pii/S0896627318304355
  87. academic.oup.com academic.oup.com
    Evidence of evolutionary history and selective sweeps in the genome of Meishan pig reveals its genetic and phenotypic characterization
    1
    1. scibot 05 Nov 2018
      RRID:SCR_012821

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    academic.oup.com/gigascience/article/7/5/giy058/5001425
  88. academic.oup.com academic.oup.com
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  89. www.sciencedirect.com www.sciencedirect.com
    Molecular, Pathological, Radiological, and Immune Profiling of Non-brainstem Pediatric High-Grade Glioma from the HERBY Phase II Randomized Trial
    1
    1. scibot 05 Nov 2018
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    sciencedirect.com/science/article/pii/S1535610818301752
  90. www.sciencedirect.com www.sciencedirect.com
    Chemoresistance Evolution in Triple-Negative Breast Cancer Delineated by Single-Cell Sequencing
    1
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    sciencedirect.com/science/article/pii/S0092867418303659
  91. www.sciencedirect.com www.sciencedirect.com
    Multiclonal Invasion in Breast Tumors Identified by Topographic Single Cell Sequencing
    1
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    sciencedirect.com/science/article/pii/S0092867417314496
  92. www.sciencedirect.com www.sciencedirect.com
    Genetic and Functional Drivers of Diffuse Large B Cell Lymphoma
    1
    1. scibot 05 Nov 2018
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    sciencedirect.com/science/article/pii/S0092867417311212
  93. europepmc.org europepmc.org
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    europepmc.org/articles/PMC5603764/
  94. Nov 2017
  95. www.sciencedirect.com www.sciencedirect.com
    Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior
    1
    1. scibot 08 Nov 2017
      ANNOVAR annotation tool

      Curator: @chewbeccax

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    sciencedirect.com/science/article/pii/S0092867416311692