Varaico: Literature-Extracted Genetic Variants

Gene:TPM1
Variant:p.D175G
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TPM1

NM_001018005.2:p.D175G

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

Importance of genetic testing in unexplained cardiac arrest.

Grondin S et al.

European Heart Journal, 2022

35352813 (PubMed )
Supplement: ehac145_supplementary_data.zip › CASPER_WES228_supplement_tables_-_R1.xlsx › Supp._Table_5

Genetic basis and outcome in a nationwide study of Finnish patients with hypertrophic cardiomyopathy.

Jääskeläinen P et al.

Esc Heart Failure, 2019

30775854 (PubMed )
Supplement: EHF2-6-436-s005.xlsx › Taul1

A new common mutation in the cardiac beta-myosin heavy chain gene in Finnish patients with hypertrophic cardiomyopathy.

Jääskeläinen P et al.

Annals of Medicine, 2014

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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."