Varaico: Literature-Extracted Genetic Variants

Gene:TNNT2
Variant:p.R286H
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TNNT2

NM_001001430.3:p.R286H

Associated Papers

The p.Asn271Ile Variant in the TNNT2 Gene Is Associated With Low-Risk Late-Onset Hypertrophic Cardiomyopathy.

Larrañaga-Moreira JM et al.

Jacc. Heart Failure, 2025

Hypertrophic Cardiomyopathy: The Impact of Age at Diagnosis of the Proband on Genetic Yield, Clinical Presentation, Outcomes, and Yield of Family Screening.

Silajdzija E et al.

Journal of the American Heart Association, 2025

41195766 (PubMed )
Supplement: JAH3-14-e043711-s001.pdf

From Rare Genetic Variants to Polygenic Risk: Understanding the Genetic Basis of Cardiomyopathies.

Garcia-Ruano AB et al.

Journal of Cardiovascular Development and Disease, 2025

Heritable Burden of Community Sudden Death by Autopsy and Molecular Phenotyping for Precision Genotype Correlation.

Tseng ZH et al.

Jacc. Clinical Electrophysiology, 2025

Genetic landscape of hypertrophic cardiomyopathy in Hong Kong Chinese population.

Lee DPH et al.

Frontiers in Genetics, 2025

The associations among genetic features, late gadolinium enhancement and prognosis in hypertrophic cardiomyopathy.

Su W et al.

Frontiers in Cardiovascular Medicine, 2025

40693221 (PubMed )
Supplement: Datasheet1.pdf

Relationship Between Genotype Status and Clinical Outcome in Hypertrophic Cardiomyopathy.

Bonaventura J et al.

Journal of the American Heart Association, 2024

38757491 (PubMed )
Supplement: JAH3-13-e033565-s001.pdf

Advancing precision medicine through the integration of clinical cardiovascular genetics - An Asian perspective.

Balakrishnan ID et al.

Genetics in Medicine Open, 2024

Cardiomyopathy in Asian Cohorts: Genetic and Epigenetic Insights.

Tan K et al.

Circulation. Genomic and Precision Medicine, 2023

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

Description of a Cohort with a New Truncating MYBPC3 Variant for Hypertrophic Cardiomyopathy in Northern Spain.

Fernández Suárez N et al.

Genes, 2023

Identification of clinically actionable secondary genetic variants from whole-genome sequencing in a large-scale Chinese population.

Cong PK et al.

Clinical and Translational Medicine, 2022

35538921 (PubMed )
Supplement: CTM2-12-e866-s001.docx

Development of a Cardiac Sarcomere Functional Genomics Platform to Enable Scalable Interrogation of Human TNNT2 Variants.

Pettinato AM et al.

Circulation, 2020

Genetic Studies of Hypertrophic Cardiomyopathy in Singaporeans Identify Variants in TNNI3 and TNNT2 That Are Common in Chinese Patients.

Pua CJ et al.

Circulation. Genomic and Precision Medicine, 2020

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

Genetic Dissection of Hypertrophic Cardiomyopathy with Myocardial RNA-Seq.

Gao J et al.

International Journal of Molecular Sciences, 2020

[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

Identification of novel mutations including a double mutation in patients with inherited cardiomyopathy by a targeted sequencing approach using the Ion Torrent PGM system.

Zhao Y et al.

International Journal of Molecular Medicine, 2016

[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."