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Atlas of cardiomyopathy associated <i>DES</i> (desmin) mutations: Functional insights into the critical 1B domain

2025-09-25

Abstract excerpt

<h4>Background</h4> Desmin is a muscle-specific intermediate filament protein crucial for maintaining cardiomyocyte structural integrity connecting multi-protein complexes and organelles. While DES mutations are known to cause various (cardio)myopathies, many rare variants remain classified as variants of uncertain significance (VUS). <h4>Methods</h4> We generated expression plasmids for 93 VUS located in the...

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Literature Corpus work
c7ae90c2-cd3a-5ee1-8f43-246596df3082
DOI
10.1101/2025.09.19.25335981
Open publication

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Atlas of cardiomyopathy associated <i>DES</i> (desmin) mutations: Functional insights into the critical 1B domainDOI 10.1101/2025.09.19.25335981
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