Varaico: Literature-Extracted Genetic Variants

Gene:USH1C
Variant:p.D75H
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USH1C

NM_153676.4:p.D75H

Associated Papers

A Novel Heterozygous Missense Variant (c.667G>T;p.Gly223Cys) in USH1C That Interferes With Cadherin-Related 23 and Harmonin Interaction Causes Autosomal Dominant Nonsyndromic Hearing Loss.

Song JS et al.

Annals of Laboratory Medicine, 2020

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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."