Varaico: Literature-Extracted Genetic Variants

Gene:TNNI3
Variant:p.K183_E184Splc
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TNNI3

NM_000363.5:p.K183_E184Splc

Associated Papers

Cardiomyopathy in children: a single-centre, retrospective study of genetic and clinical characteristics.

Sun Q et al.

Bmj Paediatrics Open, 2024

38823802 (PubMed )
Supplement: bmjpo-2023-002024.draft_revisions.pdf

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

Jin Y et al.

Frontiers in Cardiovascular Medicine, 2024

Molecular Diagnosis of Primary Cardiomyopathy in 231 Unrelated Pediatric Cases by Panel-Based Next-Generation Sequencing: A Major Focus on Five Carriers of Biallelic TNNI3 Pathogenic Variants.

Janin A et al.

Molecular Diagnosis & Therapy, 2022

[Identification of variants in TNNI3 gene in two children with restrictive cardiomyopathy].

Jia L et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2021

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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."