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Mechanisms of Pathogenicity of Hypertrophic Cardiomyopathy-Associated Troponin T (TNNT2) Variant R278C <sup>+/-</sup> During Development

2023-06-07

Abstract excerpt

Hypertrophic cardiomyopathy (HCM) is one of the most common heritable cardiovascular diseases and variants of TNNT2 (cardiac troponin T) are linked to increased risk of sudden cardiac arrest despite causing limited hypertrophy. In this study, a TNNT2 variant, R278C +/- , was generated in both human cardiac recombinant/reconstituted thin filaments (hcRTF) and human-induced pluripotent stem cells (hiPSCs) to inve...

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Literature Corpus work
a5765021-63da-58ad-8043-2bacafeff5eb
DOI
10.1101/2023.06.06.542948
Open publication

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Mechanisms of Pathogenicity of Hypertrophic Cardiomyopathy-Associated Troponin T (TNNT2) Variant R278C <sup>+/-</sup> During DevelopmentDOI 10.1101/2023.06.06.542948
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