Varaico: Literature-Extracted Genetic Variants

Gene:TNNI3
Variant:p.G203fs
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TNNI3

NM_000363.5:p.G203fs

Associated Papers

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

Inherited cardiomyopathies caused by troponin mutations.

Lu QW et al.

Journal of Geriatric Cardiology : Jgc, 2013

Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy.

van den Wijngaard A et al.

Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2011

Cellular and molecular aspects of familial hypertrophic cardiomyopathy caused by mutations in the cardiac troponin I gene.

Gomes AV et al.

Molecular and Cellular Biochemistry, 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."