10 Matching Annotations
  1. Last 7 days
  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Pontocerebellar hypoplasia type 9 with a novel combination of compound heterozygous variants in AMPD2
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    pmc.ncbi.nlm.nih.gov/articles/PMC13280344/
  3. Apr 2026
  4. 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
  5. Jul 2025
  6. 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
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    pmc.ncbi.nlm.nih.gov/articles/PMC12209816/
  7. Apr 2025
  8. 52.53.155.43 52.53.155.43
    PDF-html.html
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    52.53.155.43/80f911519a48d7f0a6787591ac196c381c08a451/PDF-html.html
  9. Jan 2025
  10. 52.53.155.43 52.53.155.43
    PDF-html.html
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    52.53.155.43/82ae0c39ea8006db6f4ed298c15350e4f29be181/PDF-html.html
  11. Dec 2023
  12. www.sciencedirect.com www.sciencedirect.com
    Clinical phenotype and genetic characteristics of SZT2 related diseases: A case report and literature review
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    sciencedirect.com/science/article/pii/S1059131123003230
  13. Jul 2023
  14. 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/
  15. Jun 2023
  16. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Clinical features and underlying mechanisms of KAT6B disease in a Chinese boy
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    onlinelibrary.wiley.com/doi/10.1002/mgg3.2202
  17. Feb 2023
  18. onlinelibrary.wiley.com onlinelibrary.wiley.com
    A novel heterozygous ATP1A2 pathogenic variant in a Chinese child with MELAS-like alternating hemiplegia
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    onlinelibrary.wiley.com/doi/10.1002/mgg3.2146
  19. Mar 2021
  20. 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