Varaico: Literature-Extracted Genetic Variants

Gene:USH1G
Variant:p.L48L
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USH1G

NM_173477.5:p.L48L

Associated Papers

USH1G with unique retinal findings caused by a novel truncating mutation identified by genome-wide linkage analysis.

Imtiaz F et al.

Molecular Vision, 2012

Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin.

Weil D et al.

Human Molecular Genetics, 2003

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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."