9 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
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    jci.org/articles/view/198165
  3. Jul 2025
  4. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Low Allele Frequency Variants Identified on Germline Multi-Gene Panel Testing for Cancer Predisposition Can Suggest the Presence of Constitutional Mosaicism
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC12209816/
  5. Apr 2025
  6. 52.53.155.43 52.53.155.43
    PDF-html.html
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    52.53.155.43/80f911519a48d7f0a6787591ac196c381c08a451/PDF-html.html
  7. Jan 2025
  8. 52.53.155.43 52.53.155.43
    PDF-html.html
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    52.53.155.43/82ae0c39ea8006db6f4ed298c15350e4f29be181/PDF-html.html
  9. Dec 2023
  10. www.sciencedirect.com www.sciencedirect.com
    Clinical phenotype and genetic characteristics of SZT2 related diseases: A case report and literature review
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    sciencedirect.com/science/article/pii/S1059131123003230
  11. Jul 2023
  12. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Case report: Novel frameshift mutation in LAMA2 gene causing congenital muscular dystrophy type 1A
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC10319579/
  13. Jun 2023
  14. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Clinical features and underlying mechanisms of KAT6B disease in a Chinese boy
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary.wiley.com/doi/10.1002/mgg3.2202
  15. Feb 2023
  16. onlinelibrary.wiley.com onlinelibrary.wiley.com
    A novel heterozygous ATP1A2 pathogenic variant in a Chinese child with MELAS-like alternating hemiplegia
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary.wiley.com/doi/10.1002/mgg3.2146
  17. Mar 2021
  18. academic.oup.com academic.oup.com
    Germline EGFR variants are over-represented in adolescents and young adults (AYA) with adrenocortical carcinoma
    1
    Visit annotations in context

    Tags

    Annotators

    URL

    academic.oup.com/hmg/article/29/22/3679/6035190