Varaico: Literature-Extracted Genetic Variants

Gene:TPM3
Variant:p.D15V
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TPM3

NM_152263.4:p.D15V

Associated Papers

A novel pathogenic variant c.44A > G (p. Asp15Gly) in TPM3 causing the phenotype of CMYP4A: A case report.

Fan S et al.

Molecular Genetics and Metabolism Reports, 2025

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