Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.L921fs
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USH2A

NM_206933.4:p.L921fs

Associated Papers

A novel statistical method for interpreting the pathogenicity of rare variants.

Wang J et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

32884132 (PubMed )
Supplement: NIHMS1630822-supplement-Supplementary_Tables.xlsx › S8_USH2A_variants

Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.

McGee TL et al.

Journal of Medical Genetics, 2010

Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene.

Sandberg MA et al.

Investigative Ophthalmology & Visual Science, 2008

Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.

Seyedahmadi BJ et al.

Experimental Eye Research, 2004

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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."