Varaico: Literature-Extracted Genetic Variants

Gene:TPM1
Variant:p.E212V
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TPM1

NM_001018005.2:p.E212V

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

Genetic Studies of Hypertrophic Cardiomyopathy in Singaporeans Identify Variants in TNNI3 and TNNT2 That Are Common in Chinese Patients.

Pua CJ et al.

Circulation. Genomic and Precision Medicine, 2020

32815737 (PubMed )
Supplement: hcg-13-424-s001.pdf

Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing.

Burns C et al.

Circulation. Cardiovascular Genetics, 2017

28790153 (PubMed )
Supplement: circgenetics_circcvg-2016-001666_supp1.pdf
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