Genome Sequencing and Variant Calling of HCM Patients with MYH7 Variants
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https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs004024.v1.p1
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To investigate potential genetic causes of cardiomyopathy we recruited 48 patients harboring rare MYH7 variants identified from panel-based testing and with a clinical manifestation of cardiomyopathy. Genome sequencing was performed to identify other potential causative variants and genetic modifiers of the cardiomyopathy phenotype, which varied among patients.]]>
Inclusion Crteria: MYH7 variant, family history of Hypertrophic Cardiomyopathy (HCM)]]>
创建时间：
2025-04-16
