Population
1092 individuals from the ethnically diverse 1000 Genomes Project database
Design
Cross-sectional
Authors
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Predicted pathogenic cardiomyopathy variants may act as modifiers rather than sole drivers; hypothesis-generating for penetrance and longitudinal studies.
The high frequency of predicted pathogenic variants in cardiomyopathy genes in the general population suggests these variants may act as phenotype modifiers rather than primary disease drivers on their own.
Golbus et al. (2012) studied this question.
Synapse has enriched 3 closely related papers on similar clinical questions. Consider them for comparative context: