Varaico: Literature-Extracted Genetic Variants

Gene:TPM1
Variant:p.E272K
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TPM1

NM_001018005.2:p.E272K

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

Dilatative fetal cardiomyopathy followed by a mirror syndrome.

Miletić AI et al.

Wiener Medizinische Wochenschrift (1946), 2024

Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients.

Heliö K et al.

Frontiers in Cardiovascular Medicine, 2023

37795486 (PubMed )
Supplement: Table2.xlsx › Supplement_2
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