Varaico: Literature-Extracted Genetic Variants

Gene:TNNI3
Variant:p.D127Y
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TNNI3

NM_000363.5:p.D127Y

Associated Papers

Troponin C gene mutations on cardiac muscle cell and skeletal Regulation: A comprehensive review.

Aborode AT et al.

Gene, 2024

Challenging of ECMO application in pediatric restrictive cardiomyopathy: case report of a novel TNNI3 variant.

Jin Y et al.

Frontiers in Cardiovascular Medicine, 2024

Cardiomyocyte Dysfunction in Inherited Cardiomyopathies.

Hassoun R et al.

International Journal of Molecular Sciences, 2021

De Novo Missense Mutations in TNNC1 and TNNI3 Causing Severe Infantile Cardiomyopathy Affect Myofilament Structure and Function and Are Modulated by Troponin Targeting Agents.

Hassoun R et al.

International Journal of Molecular Sciences, 2021

Prognostic implications of troponin T variations in inherited cardiomyopathies using systems biology.

Shakur R et al.

Npj Genomic Medicine, 2021

34127679 (PubMed )
Supplement: 41525_2021_204_MOESM1_ESM.pdf

Infantile restrictive cardiomyopathy: cTnI-R170G/W impair the interplay of sarcomeric proteins and the integrity of thin filaments.

Cimiotti D et al.

Plos One, 2020

High proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation.

Klauke B et al.

Plos One, 2017

29253866 (PubMed )
Supplement: pone.0189489.s006.docx

Inherited cardiomyopathies caused by troponin mutations.

Lu QW et al.

Journal of Geriatric Cardiology : Jgc, 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

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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."