7 Matching Annotations
  1. Last 7 days
  2. www.jci.org www.jci.org
    Functional Characterization of <i>SDHB</i> Variants Clarifies Hereditary Pheochromocytoma and Paraganglioma Risk and Genotype–Phenotype Relationships
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    jci.org/articles/view/198165
  3. Jul 2025
  4. 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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    pmc.ncbi.nlm.nih.gov/articles/PMC12234152/
  5. May 2025
  6. www.sciencedirect.com www.sciencedirect.com
    Auditory neuropathy spectrum disorder and related auditory features in patients with hearing loss associated with the MT-TS1 m.7471dup variant
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    sciencedirect.com/science/article/pii/S1567724925000534
  7. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    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/
  8. Mar 2025
  9. 52.53.155.43 52.53.155.43
    PDF-html.html
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    52.53.155.43/9d2d72079ea8ca48f04203f494da6924c0f290ae/PDF-html.html
  10. Feb 2025
  11. 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
  12. Nov 2024
  13. 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/