Varaico: Literature-Extracted Genetic Variants

Gene:TPM1
Variant:p.D275H
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TPM1

NM_001018005.2:p.D275H

Associated Papers

Identification of a novel likely pathogenic TPM1 variant linked to hypertrophic cardiomyopathy in a family with sudden cardiac death.

Azimi A et al.

Esc Heart Failure, 2024

Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.

Lin Y et al.

Orphanet Journal of Rare Diseases, 2021

Loss of Function Mutations in NNT Are Associated With Left Ventricular Noncompaction.

Bainbridge MN et al.

Circulation. Cardiovascular Genetics, 2015

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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."