Varaico: Literature-Extracted Genetic Variants

Gene:USH1G
Variant:p.E171*
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USH1G

NM_173477.5:p.E171*

Associated Papers

Identification of a variant in the USH1G gene in a family with Usher syndrome

Gélvez N et al.

Biomedica : Revista Del Instituto Nacional De Salud, 2025

Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease.

Jiman OA et al.

European Journal of Human Genetics : Ejhg, 2020

31836858 (PubMed )
Supplement: 41431_2019_548_MOESM1_ESM.docx

Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.

Richard EM et al.

Human Mutation, 2019

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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."