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

• Päätekijät: Paige Carlson (Tekijä), Mary K. Wojczynski (Tekijä), Todd Druley (Tekijä), Joseph H. Lee (Tekijä), Joseph M. Zmuda (Tekijä), Bharat Thyagarajan (Tekijä)
• Aineistotyyppi: Kirja
• Julkaistu: BMC, 2020-04-01T00:00:00Z.
• Aiheet: article
• Linkit: Connect to this object online.

Abstract 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 i...