Varaico: Literature-Extracted Genetic Variants

Gene:USH1C
Variant:p.Q383fs
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USH1C

NM_153676.4:p.Q383fs

Associated Papers

Genetics of prelingual isolated deafness and Usher syndrome in the Maghreb and Jordan: Harnessing the potential of homozygosity.

Riahi Z et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

41359850 (PubMed )
Supplement: pnas.2518445122.sapp.pdf

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.

Bonnet C et al.

European Journal of Human Genetics : Ejhg, 2016

Usher syndrome in Denmark: mutation spectrum and some clinical observations.

Dad S et al.

Molecular Genetics & Genomic Medicine, 2016

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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."