Article

Identification of Ultra-Rare Variants Associated with Dilated Cardiomyopathy: Insights into LMNA Pathogenesis and Prognostic Implications including E115M and R190W

2025-08-03

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> Although the genetic backgrounds of dilated cardiomyopathy (DCM) have been intensively investigated, the clinical impact of ultra-rare genetic variants (URVs) on DCM remains underexplored. <h4>Aims</h4> This study aimed to identify genes enriched for pathogenic coding URVs in DCM patients and elucidate their clinical and structural significance, with focus on LMNA mutations...

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Literature Corpus work: 0eb9ed38-e8ac-5fe6-8c64-68edf3b60025
DOI: 10.1101/2025.08.01.25332667

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