Article
Implication of <i>TITIN</i> Variations in Dilated Cardiomyopathy: Integrating Whole Exome Sequencing With Molecular Dynamics Simulation Study
2024-11-11
Abstract excerpt
Dilated cardiomyopathy (DCM) is one of the leading causes of heart failure, characterized by ventricular dilation and impaired systolic function. Variations in the TITIN ( TTN) gene, which encodes the giant muscle protein TTN, play a pivotal role in the genetic underpinnings of DCM. We conducted WES on 15 patients (5 familial and 10 sporadic) diagnosed with idiopathic DCM and identified 88 exonic variants includ...
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Identifiers and source
- Literature Corpus work
- 39f65371-0070-587f-a5ef-6d758cfd02e0
- DOI
- 10.1101/2024.11.10.622829
