Varaico: Literature-Extracted Genetic Variants

Gene:TNNI3K
Variant:p.H592Y
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TNNI3K

NM_015978.3:p.H592Y

Associated Papers

Discriminating activating, deactivating and resistance variants in protein kinases.

Singh G et al.

Genome Medicine, 2025

[Dilated cardiomyopathy and conduction disorder due to TNNI3K mutation].

Gayán-Ordás J et al.

Archivos De Cardiologia De Mexico, 2025

Reduced kinase function in two ultra-rare TNNI3K variants in families with congenital junctional ectopic tachycardia.

Pham C et al.

Clinical Genetics, 2024

Genetic Burden of TNNI3K in Diagnostic Testing of Patients With Dilated Cardiomyopathy and Supraventricular Arrhythmias.

Pham C et al.

Circulation. Genomic and Precision Medicine, 2023

Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients.

Heliö K et al.

Frontiers in Cardiovascular Medicine, 2023

37795486 (PubMed )
Supplement: Table2.xlsx › Supplement_2
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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."