Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.S307_H308insFs
Back to variants list

USH2A

NM_206933.4:p.S307_H308insFs

Associated Papers

Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.

Van Schil K et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

Molecular epidemiology of Usher syndrome in Italy.

Vozzi D et al.

Molecular Vision, 2011

Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.

Jaijo T et al.

Investigative Ophthalmology & Visual Science, 2010

Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype.

Schwartz SB et al.

Investigative Ophthalmology & Visual Science, 2005

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."