Varaico: Literature-Extracted Genetic Variants

Gene:TSPEAR
Variant:p.G475R
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TSPEAR

NM_144991.3:p.G475R

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

Confirmation of a Phenotypic Entity for TSPEAR Variants in Egyptian Ectodermal Dysplasia Patients and Role of Ethnicity.

Rabie EA et al.

Genes, 2022

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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."