Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.K811fs
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USH2A

NM_206933.4:p.K811fs

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

[Molecular genetics of Usher syndrome].

Tazetdinov AM et al.

Genetika, 2008

Clinical and genetic studies in Spanish patients with Usher syndrome type II: description of new mutations and evidence for a lack of genotype--phenotype correlation.

Bernal S et al.

Clinical Genetics, 2005

Mutational spectrum in Usher syndrome type II.

Ouyang XM et al.

Clinical Genetics, 2004

Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively.

Nájera C et al.

Human Mutation, 2002

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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."