Varaico: Literature-Extracted Genetic Variants

Gene:TNNT2
Variant:p.R286C
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TNNT2

NM_001001430.3:p.R286C

Associated Papers

Genotype-Phenotype Relationship in Hypertrophic Cardiomyopathy.

Žebrauskienė D et al.

Genes, 2025

41010036 (PubMed )
Supplement: genes-16-01090-s001.zip › genes-3830911-supplementary › Supplemental_material_S2.pdf

The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.

McGurk KA et al.

American Journal of Human Genetics, 2023

37652022 (PubMed )
Supplement: mmc3.xlsx › Table_S10

De novo and inherited variants in coding and regulatory regions in genetic cardiomyopathies.

Vadgama N et al.

Human Genomics, 2022

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM8_ESM.xlsx › S6B

[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

Does Sudden Unexplained Nocturnal Death Syndrome Remain the Autopsy-Negative Disorder: A Gross, Microscopic, and Molecular Autopsy Investigation in Southern China.

Zhang L et al.

Mayo Clinic Proceedings, 2016

Troponins, intrinsic disorder, and cardiomyopathy.

Na I et al.

Biological Chemistry, 2016

Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics.

Mook OR et al.

Journal of Medical Genetics, 2013

[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

Spatial QRS-T angle can indicate presence of myocardial fibrosis in pediatric and young adult patients with hypertrophic cardiomyopathy.

Österberg AW et al.

Journal of Electrocardiology, 0

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