Prevalence of clinically actionable disease variants in exceptionally long-lived families

BACKGROUND: Phenotypic expression of pathogenic variants in individuals with no family history of inherited disorders remains unclear. METHODS: We evaluated the prevalence of pathogenic variants in 25 genes associated with Mendelian-inherited disorders in 3015 participants from 485 families in the L...

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Bibliographic Details
Published in:BMC Med Genomics
Main Authors: Carlson, Paige, Wojczynski, Mary K., Druley, Todd, Lee, Joseph H., Zmuda, Joseph M., Thyagarajan, Bharat
Format: Artigo
Language:Inglês
Published: BioMed Central 2020
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7146901/
https://ncbi.nlm.nih.gov/pubmed/32272925
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-020-0710-5
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