Varaico: Literature-Extracted Genetic Variants

Gene:TNNI3
Variant:p.R162L
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TNNI3

NM_000363.5:p.R162L

Associated Papers

Focus on cardiac troponin complex: From gene expression to cardiomyopathy.

Ragusa R et al.

Genes & Diseases, 2024

Multinational experience with next-generation sequencing: opportunity to identify transthyretin cardiac amyloidosis and Fabry disease.

Silva SME et al.

Cardiovascular Diagnosis and Therapy, 2024

Ethnicity, consanguinity, and genetic architecture of hypertrophic cardiomyopathy.

Allouba M et al.

European Heart Journal, 2023

Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies.

Lipov A et al.

Nature Cardiovascular Research, 2023

38666070 (PubMed )
Supplement: 44161_2023_346_MOESM3_ESM.xlsx › S5
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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."