Varaico: Literature-Extracted Genetic Variants

Gene:USH1C
Variant:p.M742_F743Splc
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USH1C

NM_153676.4:p.M742_F743Splc

Associated Papers

Exome sequencing identifies a founder frameshift mutation in an alternative exon of USH1C as the cause of autosomal recessive retinitis pigmentosa with late-onset hearing loss.

Khateb S et al.

Plos One, 2012

Mutations in the USH1C gene associated with sector retinitis pigmentosa and hearing loss.

Saihan Z et al.

Retina (philadelphia, Pa.), 2011

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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."