75 Matching Annotations
  1. Last 7 days
  2. aacrjournals.org aacrjournals.org
    Human papillomavirus integration induces oncogenic host gene fusions in oropharyngeal cancers
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    aacrjournals.org/cancerdiscovery/article/15/9/1927/764362/Human-Papillomavirus-Integration-Induces-Oncogenic
  3. Sep 2025
  4. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Cemiplimab in locally advanced or metastatic secondary angiosarcomas (CEMangio): A phase II clinical trial and biomarker analyses
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    pmc.ncbi.nlm.nih.gov/articles/PMC12402795/
  5. Aug 2025
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    Functional and clinical insights into nuclear receptor variants for advancing precision diagnostics in male infertility
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    sciencedirect.com/science/article/pii/S2352396425003433
  7. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    ClinVar Database Evolution And Impact On Potential Pathogenic Germline Variant Reporting From Tumor Comprehensive Genomic Profiling
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    pmc.ncbi.nlm.nih.gov/articles/PMC12322967/
  8. Jul 2025
  9. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    RECLASSIFICATION OF ATM MISSENSE VARIANTS OF UNCERTAIN SIGNIFICANCE BY INTEGRATING RESULTS FROM SYSTEMATIC FUNCTIONAL ASSAYS INTO AN ACMG POINTS-BASED FRAMEWORK
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  10. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Clinical Significance of TP53-Mutant Clonal Hematopoiesis Across Diseases
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    pmc.ncbi.nlm.nih.gov/articles/PMC12209765/
  11. Jun 2025
  12. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Cambridge Neoadjuvant Cancer of the Prostate (CANCAP03): A Window Study into the Effects of Olaparib ± Degarelix in Primary Prostate Cancer
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    pmc.ncbi.nlm.nih.gov/articles/PMC7617790/
  13. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Spatial–Temporal Diversity of Extrachromosomal DNA Shapes Urothelial Carcinoma Evolution and the Tumor Immune Microenvironment
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    pmc.ncbi.nlm.nih.gov/articles/PMC12130809/
  14. May 2025
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    The genomic landscape of benign and malignant thyroid tumors from individuals carrying germline PTEN variants is distinct from sporadic thyroid cancers
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    pmc.ncbi.nlm.nih.gov/articles/PMC11534558/
  16. Apr 2025
  17. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Germline variants in patients from the Iranian hereditary colorectal cancer registry
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    pmc.ncbi.nlm.nih.gov/articles/PMC11995590/
  18. Mar 2025
  19. 52.53.155.43 52.53.155.43
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  20. Feb 2025
  21. aacrjournals.org aacrjournals.org
    A novel human SDHA‑knockout cell line model for the functional analysis of clinically‑relevant SDHA variants
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    aacrjournals.org/clincancerres/article/30/23/5399/750191/A-Novel-Human-SDHA-Knockout-Cell-Line-Model-for
  22. Jan 2025
  23. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Tp53 determines the spatial dynamics of M1/M2 tumor-associated macrophages and M1-driven tumoricidal effects
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    pmc.ncbi.nlm.nih.gov/articles/PMC11754596/
  24. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Predisposition footprints in the somatic genome of Wilms tumours
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    pmc.ncbi.nlm.nih.gov/articles/PMC7617291/
  25. physoc.onlinelibrary.wiley.com physoc.onlinelibrary.wiley.com
    Skin disease-associated GJB4 variants differentially influence connexin stability, cell viability and channel function
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    physoc.onlinelibrary.wiley.com/doi/10.1113/JP286367
  26. Dec 2024
  27. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Pan-Cancer Analysis of Homologous Recombination Deficiency in Cell Lines
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    pmc.ncbi.nlm.nih.gov/articles/PMC11621922/
  28. Nov 2024
  29. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Molecular and modular intricacies of precision oncology
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    pmc.ncbi.nlm.nih.gov/articles/PMC11537923/
  30. Oct 2024
  31. link.springer.com link.springer.com
    Mapping multimodal phenotypes to perturbations in cells and tissue with CRISPRmap
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    link.springer.com/article/10.1038/s41587-024-02386-x
  32. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Clinical value of liquid biopsy in FGFR2 fusion-positive cholangiocarcinoma patients during targeted therapy
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    ncbi.nlm.nih.gov/pmc/articles/PMC11443220/
  33. Sep 2024
  34. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    An interconnected data infrastructure to support large-scale rare disease research
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    ncbi.nlm.nih.gov/pmc/articles/PMC11413801/
  35. Jul 2024
  36. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Cerebrospinal fluid cfDNA sequencing for classification of central nervous system glioma
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    ncbi.nlm.nih.gov/pmc/articles/PMC11247324/
  37. Jun 2024
  38. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    MONET: a database for prediction of neoantigens derived from microsatellite loci
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    ncbi.nlm.nih.gov/pmc/articles/PMC11148240/
  39. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Memory/Active T-Cell Activation Is Associated with Immunotherapeutic Response in Fumarate Hydratase–Deficient Renal Cell Carcinoma
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    ncbi.nlm.nih.gov/pmc/articles/PMC11145163/
  40. May 2024
  41. aacrjournals.org aacrjournals.org
    Negative hyperselection of resistance mutations for panitumumab maintenance in RAS wild-type metastatic colorectal cancer (PanaMa phase II trial, AIO KRK 0212)
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    aacrjournals.org/clincancerres/article/30/7/1256/741834/Negative-Hyperselection-of-Resistance-Mutations
  42. 52.53.155.43 52.53.155.43
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  43. Apr 2024
  44. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Co-mutations and KRAS G12C inhibitor efficacy in advanced NSCLC
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    ncbi.nlm.nih.gov/pmc/articles/PMC11024958/
  45. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A Novel CARMIL2 Immunodeficiency Identified in a Subset of Cavalier King Charles Spaniels with Pneumocystis and Bordetella Pneumonia
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    ncbi.nlm.nih.gov/pmc/articles/PMC10970956/
  46. Mar 2024
  47. 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
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    ncbi.nlm.nih.gov/pmc/articles/PMC10527971/
  48. Dec 2023
  49. www.sciencedirect.com www.sciencedirect.com
    Titin domains with reduced core hydrophobicity cause dilated cardiomyopathy
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    sciencedirect.com/science/article/pii/S2211124723015024
  50. 52.53.155.43 52.53.155.43
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  51. journals.physiology.org journals.physiology.org
    Single-cell reconstruction and mutation enrichment analysis identifies dysregulated cardiomyocyte and endothelial cells in congenital heart disease
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    journals.physiology.org/doi/10.1152/physiolgenomics.00070.2023
  52. Nov 2023
  53. www.nature.com www.nature.com
    Preclinical evidence for the effective use of TL-895, a highly selective and potent second-generation BTK inhibitor, for the treatment of B-cell malignancies
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    nature.com/articles/s41598-023-47735-z
  54. Sep 2023
  55. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Identifying mechanisms of resistance by circulating tumour DNA in EVOLVE, a Phase II Trial of Cediranib Plus Olaparib for Ovarian Cancer at time of PARP Inhibitor Progression
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    ncbi.nlm.nih.gov/pmc/articles/PMC10502468/
  56. Jul 2023
  57. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Case report: Novel frameshift mutation in LAMA2 gene causing congenital muscular dystrophy type 1A
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    ncbi.nlm.nih.gov/pmc/articles/PMC10319579/
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  59. Jun 2023
  60. 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
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    ncbi.nlm.nih.gov/pmc/articles/PMC10281085/
  61. May 2023
  62. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Mutational Landscape of CEBPA in Mexican Pediatric Acute Myeloid Leukemia Patients: Prognostic Implications
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    ncbi.nlm.nih.gov/pmc/articles/PMC9367218/
  63. Apr 2023
  64. academic.oup.com academic.oup.com
    Regulatory Mendelian Mutation score for GRCh38
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    academic.oup.com/gigascience/article/doi/10.1093/gigascience/giad024/7135629
  65. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Structurally Complex Osteosarcoma Genomes Exhibit Limited Heterogeneity within Individual Tumors and across Evolutionary Time
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    ncbi.nlm.nih.gov/pmc/articles/PMC10093779/
  66. Mar 2023
  67. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Predicting Cancer Risk from Germline Whole-exome Sequencing Data Using a Novel Context-based Variant Aggregation Approach
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    ncbi.nlm.nih.gov/pmc/articles/PMC10032232/
  68. Feb 2023
  69. 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
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    ncbi.nlm.nih.gov/pmc/articles/PMC9936149/
  70. Jan 2023
  71. www.nature.com www.nature.com
    Germline rare deleterious variant load alters cancer risk, age of onset and tumor characteristics
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    nature.com/articles/s41698-023-00354-3
  72. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Human metastatic cholangiocarcinoma patient-derived xenografts and tumoroids for preclinical drug evaluation
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    ncbi.nlm.nih.gov/pmc/articles/PMC9873249/
  73. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Comparative Genomics Provides Etiologic and Biological Insight into Melanoma Subtypes
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    ncbi.nlm.nih.gov/pmc/articles/PMC9716259/
  74. Nov 2022
  75. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Phase I trial of ribociclib with platinum chemotherapy in ovarian cancer
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    ncbi.nlm.nih.gov/pmc/articles/PMC9675476/
  76. Oct 2022
  77. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Case report: A novel case of parental mosaicism in SMC1A gene causes inherited Cornelia de Lange syndrome
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    ncbi.nlm.nih.gov/pmc/articles/PMC9554350/
  78. Sep 2022
  79. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Integrative RNA-omics discovers GNAS alternative splicing as a phenotypic driver of splicing factor-mutant neoplasms
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    ncbi.nlm.nih.gov/pmc/articles/PMC8904276/
  80. Aug 2022
  81. www.sciencedirect.com www.sciencedirect.com
    Protocol to identify host-viral protein interactions between coagulation-related proteins and their genetic variants with SARS-CoV-2 proteins
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    sciencedirect.com/science/article/pii/S2666166722005287
  82. Jun 2022
  83. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Missense Variants Reveal Functional Insights Into the Human ARID Family of Gene Regulators
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    ncbi.nlm.nih.gov/pmc/articles/PMC9077328/
  84. aacrjournals.org aacrjournals.org
    Predictive markers of response to neoadjuvant durvalumab with nab-paclitaxel and dose dense doxorubicin/cyclophosphamide in basal-like triple negative breast cancer
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    aacrjournals.org/clincancerres/article/28/12/2587/699273/Predictive-Markers-of-Response-to-Neoadjuvant
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    A Humanized Animal Model Predicts Clonal Evolution and Therapeutic Vulnerabilities in Myeloproliferative Neoplasms
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    ncbi.nlm.nih.gov/pmc/articles/PMC8716669/
  86. May 2022
  87. aacrjournals.org aacrjournals.org
    Single cell characterization of the cellular landscape of acral melanoma identifies novel targets for immunotherapy
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    aacrjournals.org/clincancerres/article/28/10/2131/694823/Single-cell-Characterization-of-the-Cellular
  88. Feb 2022
  89. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Solitary Median Maxillary Central Incisor Syndrome: An Exploration of the Pathogenic Mechanism
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    ncbi.nlm.nih.gov/pmc/articles/PMC8819842/
  90. Jan 2022
  91. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Novel variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability in Iranian consanguineous families
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    onlinelibrary.wiley.com/doi/full/10.1002/jcla.24241
  92. Oct 2021
  93. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Genomic alterations during the in situ to invasive ductal breast carcinoma transition shaped by the immune system
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    ncbi.nlm.nih.gov/pmc/articles/PMC8026652/
  94. Aug 2021
  95. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    CaMKII enhances voltage-gated sodium channel Nav1.6 activity and neuronal excitability
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    ncbi.nlm.nih.gov/pmc/articles/PMC7450116/
  96. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Genomic characterization of de novo metastatic breast cancer
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    ncbi.nlm.nih.gov/pmc/articles/PMC7887078/
  97. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Untitled document
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    ncbi.nlm.nih.gov/pmc/articles/PMC6236233/
  98. Jul 2021
  99. www.sciencedirect.com www.sciencedirect.com
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    sciencedirect.com/science/article/pii/S1550413118306302
  100. europepmc.org europepmc.org
    A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency.
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    europepmc.org/articles/PMC5764568/
  101. Apr 2021
  102. www.sciencedirect.com www.sciencedirect.com
    Functional interrogation of DNA damage response variants with base editing screens
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    sciencedirect.com/science/article/pii/S0092867421000842
  103. Mar 2021
  104. academic.oup.com academic.oup.com
    Germline EGFR variants are over-represented in adolescents and young adults (AYA) with adrenocortical carcinoma
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    academic.oup.com/hmg/article/29/22/3679/6035190
  105. Jan 2021
  106. academic.oup.com academic.oup.com
    Genome diversity in Ukraine
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    academic.oup.com/gigascience/article/10/1/giaa159/6079618
  107. Sep 2020
  108. www.sciencedirect.com www.sciencedirect.com
    Structural modeling, mutation analysis, and in vitro expression of usherin, a major protein in inherited retinal degeneration and hearing loss
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    sciencedirect.com/science/article/pii/S2001037020302889
  109. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    In silico analysis and high-risk pathogenic phenotype predictions of non-synonymous single nucleotide polymorphisms in human Crystallin beta A4 gene associated with congenital cataract
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    ncbi.nlm.nih.gov/pmc/articles/PMC6959596/
  110. www.jbc.org www.jbc.org
    Assorted dysfunctions of endosomal alkali cation/proton exchanger SLC9A6 variants linked to Christianson syndrome
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    jbc.org/content/295/20/7075.full
  111. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Novel and de novo point and large microdeletion mutation in PRRT2‐related epilepsy
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    onlinelibrary.wiley.com/doi/10.1002/brb3.1597
  112. Jan 2020
  113. www.sciencedirect.com www.sciencedirect.com
    A Single-Cell Transcriptomic Atlas of Human Neocortical Development during Mid-gestation
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    sciencedirect.com/science/article/pii/S0896627319305616
  114. Nov 2018
  115. onlinelibrary.wiley.com onlinelibrary.wiley.com
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    onlinelibrary.wiley.com/doi/full/10.1002/brb3.1134
  116. Nov 2017
  117. elifesciences.org elifesciences.org
    Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression
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    elifesciences.org/articles/23813
  118. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Olfaction in Parkin carriers in Chinese patients with Parkinson disease
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    ncbi.nlm.nih.gov/pmc/articles/PMC5434185/
  119. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Pubertal development in healthy children is mirrored by DNA methylation patterns in peripheral blood
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    ncbi.nlm.nih.gov/pmc/articles/PMC4923870/