Article
Domain-specific association of single-nucleotide variants in the LMNA gene with the phenotypic expression of dilated cardiomyopathy.
International journal of cardiology - 1 Apr 2025
Zhuo Wen, Jiang Zhenhong, Xun Mengwei, Lin Mouwen, Zhou Qiongqiong, Marian Ali J, Hong Kui
Abstract excerpt
BACKGROUND: LMNA gene variants cause a spectrum of phenotypes referred to as laminopathies. However, the topological distribution of the LMNA variants and their phenotypic effects have not been delineated. We investigated the associations of variants located at different LMNA domains with clinical phenotypes in dilated cardiomyopathy (DCM) patients. METHODS: All reported single-nucleotide variants (SNVs) in LMNA...
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