Varaico: Literature-Extracted Genetic Variants

Gene:TNNT2
Variant:p.R92L
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TNNT2

NM_001001430.3:p.R92L

Associated Papers

Genetic Screening Reveals Heterogeneous Clinical Phenotypes in Patients with Dilated Cardiomyopathy and Troponin T2 Variants.

Weis A et al.

Journal of Personalized Medicine, 2023

37108997 (PubMed )
Supplement: jpm-13-00611-s001.zip › jpm-2274209-supplementary.pdf

A comprehensive guide to genetic variants and post-translational modifications of cardiac troponin C.

Reinoso TR et al.

Journal of Muscle Research and Cell Motility, 2021

[Gene screening and phenotype analysis in a pedigree with familial hypertrophic cardiomyopathy from Yunnan Province].

Pang MJ et al.

Zhonghua Xin Xue Guan Bing Za Zhi, 2018

Troponins, intrinsic disorder, and cardiomyopathy.

Na I et al.

Biological Chemistry, 2016

Role of Imaging in the Evaluation of Patients at Risk for Sudden Cardiac Death: Genotype-Phenotype Intersection.

Nagueh SF et al.

Jacc. Cardiovascular Imaging, 2015

[Cardiac troponin I gene mutation (Asp127Tyr) in a Chinese patient with hypertrophic cardiomyopathy].

SHENG HZ et al.

Zhonghua Xin Xue Guan Bing Za Zhi, 2008

Ile90Met, a novel mutation in the cardiac troponin T gene for familial hypertrophic cardiomyopathy in a Chinese pedigree.

Xu C et al.

Genetics Research, 2008

[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

Codon 102 of the cardiac troponin T gene is a putative hot spot for mutations in familial hypertrophic cardiomyopathy.

Forissier JF et al.

Circulation, 1996

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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."