Varaico: Literature-Extracted Genetic Variants

Gene:TNNT2
Variant:p.K124N
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TNNT2

NM_001276345.2:p.K124N

Associated Papers

High-resolution cryo-EM structure of the junction region of the native cardiac thin filament in relaxed state.

Risi CM et al.

Pnas Nexus, 2023

Finding the candidate sequence variants for diagnosis of hypertrophic cardiomyopathy in East Slovak patients.

Zigova M et al.

Journal of Clinical Laboratory Analysis, 2018

Fetal cardiac troponin isoforms rescue the increased Ca2+ sensitivity produced by a novel double deletion in cardiac troponin T linked to restrictive cardiomyopathy: a clinical, genetic, and functional approach.

Pinto JR et al.

The Journal of Biological Chemistry, 2011

[A novel missense mutation, K124N, in the troponin T gene of Chinese populations with hypertrophic cardiomyopathy].

An FS et al.

Zhonghua Yi Xue Za Zhi, 2004

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."