Article

Common genetic modifiers influence cardiomyopathy susceptibility among the carriers of rare pathogenic variants

2024-12-18

Abstract excerpt

Cardiomyopathy presents significant medical burden due to frequent hospitalizations and invasive interventions. While cardiomyopathy is considered a rare monogenic disorder caused by rare pathogenic variants in a few genes, emerging evidence suggests that common genetic modifiers influence disease penetrance and clinical variability. Quantifying the interplay between common genetic modifiers and rare pathogenic va...

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Literature Corpus work: ce17b7cc-871e-535d-a9ea-bb3cd8c48082
DOI: 10.1101/2024.12.17.24318501

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