Varaico: Literature-Extracted Genetic Variants

Gene:TNNI3
Variant:p.K183_E184Splc
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TNNI3

NM_000363.5:p.K183_E184Splc

Associated Papers

Genetic Testing Yield and Clinical Characteristics of Hypertrophic Cardiomyopathy in Understudied Ethnic Groups: Insights From a New Zealand National Registry.

Earle NJ et al.

Circulation. Heart Failure, 2024

The burden of splice-disrupting variants in inherited heart disease and unexplained sudden cardiac death.

Singer ES et al.

Npj Genomic Medicine, 2023

37821546 (PubMed )
Supplement: 41525_2023_373_MOESM2_ESM.xlsx › Table_S1_Demographics

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

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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."