Varaico: Literature-Extracted Genetic Variants

Gene:TMC1
Variant:p.S390C
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TMC1

NM_138691.3:p.S390C

Associated Papers

Identification and characterization of a novel p. S390C variant in TMC1 in an autosomal recessive family with non-syndromic hearing loss.

Dong H et al.

Acta Oto-laryngologica, 2026

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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."