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Filters: Keyword is Genetic Predisposition to Disease and Author is O'Donnell-Luria, Anne [Clear All Filters]
Rare penetrant mutations confer severe risk of common diseases. Science. 2023 ;380(6648):eabo1131.
. Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. Am J Med Genet A. 2021 ;185(1):119-133.
. Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes. Nat Commun. 2021 ;12(1):3505.
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