4 results match your criteria: "Division of Human Genetics Children's Hospital of Philadelphia Philadelphia PA.[Affiliation]"
Genetics of BAG3: A Paradigm for Developing Precision Therapies for Dilated Cardiomyopathies.
J Am Heart Assoc
December 2022
The Center for Applied Genomics, Children's Hospital of Philadelphia Philadelphia PA.
Nonischemic dilated cardiomyopathy is a common form of heart muscle disease in which genetic factors play a critical etiological role. In this regard, both rare disease-causing mutations and common disease-susceptible variants, in the Bcl-2-associated athanogene 3 () gene have been reported, highlighting the critical role of in cardiomyocytes and in the development of dilated cardiomyopathy. The phenotypic effects of the mutations help investigators understand the structure and function of the gene.
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