Varaico: Literature-Extracted Genetic Variants

Gene:TSPEAR
Variant:p.G475S
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TSPEAR

NM_144991.3:p.G475S

Associated Papers

A novel pathogenic mutation in TSPEAR associated with sensorineural hearing loss: a case report and review of the literature.

Ahmadkhani A et al.

Journal of Medical Case Reports, 2026

Expanding the Mutational Spectrum of TSPEAR in Ectodermal Dysplasia Type 14: A Familial Case Study.

Sirica R et al.

Genes, 2025

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