Varaico: Literature-Extracted Genetic Variants

Gene:TPM1
Variant:p.E272G
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TPM1

NM_001018005.2:p.E272G

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

Investigation of de novo variation in pediatric cardiomyopathy.

Parrott A et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020

Genetic Testing in Pediatric Left Ventricular Noncompaction.

Miller EM et al.

Circulation. Cardiovascular Genetics, 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."