Varaico: Literature-Extracted Genetic Variants

Gene:USH1C
Variant:p.A123E
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USH1C

NM_153676.4:p.A123E

Associated Papers

Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population.

Ebermann I et al.

Genome Biology, 2007

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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."