Listar1. Investigación por tema "Disease genetics"
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Identification of an Elusive Spliceogenic MYBPC3 Variant in an Otherwise Genotype-Negative Hypertrophic Cardiomyopathy Pedigree
(Nature, 2022-05-04)[Abstract] The finding of a genotype-negative hypertrophic cardiomyopathy (HCM) pedigree with several affected members indicating a familial origin of the disease has driven this study to discover causative gene variants. ...