Tag: variant interpretation
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Genetic study flags ethnicity-specific mutations in Chinese hypertrophic cardiomyopathy patients
Breakthrough study sheds light on the genetic landscape of hypertrophic cardiomyopathy in Chinese patients Hypertrophic cardiomyopathy (HCM) is a leading cause of sudden cardiac death in young people and a condition shaped in large part by genetic variants in sarcomere-related genes. While much of the existing research has focused on European populations, a groundbreaking cross-sectional…
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Ethnicity-Specific Genetics Reveal Unique Mutations in Chinese Hypertrophic Cardiomyopathy Patients
New Insights into the Genetics of Hypertrophic Cardiomyopathy in Chinese Patients Hypertrophic cardiomyopathy (HCM) is a genetic heart disorder characterized by abnormal thickening of the heart muscle. While much of the genetic research has focused on European cohorts, a new cross-sectional study from West China Hospital and the University of Birmingham expands our understanding of…