Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.R3941W
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USH2A

NM_206933.4:p.R3941W

Associated Papers

Genetic Characteristics and Variation Spectrum of USH2A-Related Retinitis Pigmentosa and Usher Syndrome.

Li W et al.

Frontiers in Genetics, 2022

36110214 (PubMed )
Supplement: Table1.XLSX › 768_distinct_USH2A_variants

Identification of 11 potentially relevant gene mutations involved in growth retardation, intellectual disability, joint contracture, and hepatopathy.

Diao H et al.

Medicine, 2018

30431579 (PubMed )
Supplement: medi-97-e13117-s002.xlsx › Sheet1

Mutational landscapes of tongue carcinoma reveal recurrent mutations in genes of therapeutic and prognostic relevance.

Vettore AL et al.

Genome Medicine, 2015

26395002 (PubMed )
Supplement: 13073_2015_219_MOESM12_ESM.xls › Plan1
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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."