Varaico: Literature-Extracted Genetic Variants

Gene:TNNI3
Variant:p.R170G
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TNNI3

NM_000363.5:p.R170G

Associated Papers

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

Jin Y et al.

Frontiers in Cardiovascular Medicine, 2024

Case Report: Restrictive cardiomyopathy due to a rare mutation in troponin I gene (TNNI3) in a patient.

Deng L et al.

Frontiers in Cardiovascular Medicine, 2024

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

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

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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."