Varaico: Literature-Extracted Genetic Variants

Gene:TNNT2
Variant:p.P77L
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TNNT2

NM_001001430.3:p.P77L

Associated Papers

A Missense Variation in PHACTR2 Associates with Impaired Actin Dynamics, Dilated Cardiomyopathy, and Left Ventricular Non-Compaction in Humans.

Majdalani P et al.

International Journal of Molecular Sciences, 2023

36674904 (PubMed )
Supplement: ijms-24-01388-s001.zip › Supplementary.pdf

Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.

van Waning JI et al.

Journal of the American Heart Association, 2019

[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

The importance of genetic counseling, DNA diagnostics, and cardiologic family screening in left ventricular noncompaction cardiomyopathy.

Hoedemaekers YM et al.

Circulation. Cardiovascular Genetics, 2010

20530761 (PubMed )
Supplement: 903898_supplemental_material.pdf

[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

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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."