Varaico: Literature-Extracted Genetic Variants

Gene:TNNT2
Variant:p.F120I
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TNNT2

NM_001276345.2:p.F120I

Associated Papers

Focus on cardiac troponin complex: From gene expression to cardiomyopathy.

Ragusa R et al.

Genes & Diseases, 2024

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

Are transient protein-protein interactions more dispensable?

Ghadie MA et al.

Plos Computational Biology, 2022

35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _B__Y2H-SI_disMut_edgotypes

Disclosure of secondary findings in exome sequencing of 2480 Japanese cancer patients.

Horiuchi Y et al.

Human Genetics, 2021

Mutation location of HCM-causing troponin T mutations defines the degree of myofilament dysfunction in human cardiomyocytes.

Schuldt M et al.

Journal of Molecular and Cellular Cardiology, 2021

Mutation Edgotype Drives Fitness Effect in Human.

Ghadie M et al.

Frontiers in Bioinformatics, 2021

36303776 (PubMed )
Supplement: Table2.XLSX › _B__Y2H-SI_pathMt_edgotype

[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

[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."