Varaico: Literature-Extracted Genetic Variants

Gene:TPM1
Variant:p.S229F
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TPM1

NM_001018005.2:p.S229F

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

Left ventricular non-compaction with Ebstein anomaly attributed to a TPM1 mutation.

Nijak A et al.

European Journal of Medical Genetics, 2018

Tropomyosin 1: Multiple roles in the developing heart and in the formation of congenital heart defects.

England J et al.

Journal of Molecular and Cellular Cardiology, 2017

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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."