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Article

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

BMC medical genomics - 10 Apr 2020

Carlson Paige, Wojczynski Mary K, Druley Todd, Lee Joseph H, Zmuda Joseph M, Thyagarajan Bharat

Abstract excerpt

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 Long Life Family Study (LLFS). Boot-strapping and Fisher's exact test were used to determine whether allele...

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Identifiers

PMID: 32272925
DOI: 10.1186/s12920-020-0710-5
PMCID: PMC7146901

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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