Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.S2828fs
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USH2A

NM_206933.4:p.S2828fs

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

Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report.

Xing D et al.

Bmc Ophthalmology, 2020

33302902 (PubMed )
Supplement: 12886_2020_1711_MOESM1_ESM.xlsx › SelectedGene

Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II.

Xu W et al.

Molecular Vision, 2011

Novel USH2A compound heterozygous mutations cause RP/USH2 in a Chinese family.

Liu X et al.

Molecular Vision, 2010

Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II.

Dai H et al.

Molecular Vision, 2008

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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."