Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.R317delFs
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USH2A

NM_206933.4:p.R317delFs

Associated Papers

High prevalence of exon-13 variants in USH2A-related retinal dystrophies in Taiwanese population.

Lin YW et al.

Orphanet Journal of Rare Diseases, 2024

Global spectrum of USH2A mutation in inherited retinal dystrophies: Prompt message for development of base editing therapy.

Su BN et al.

Frontiers in Aging Neuroscience, 2022

36034145 (PubMed )
Supplement: Table_2.XLSX › Sheet1

Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan.

Chen TC et al.

Npj Genomic Medicine, 2021

33608557 (PubMed )
Supplement: 41525_2021_180_MOESM2_ESM.xlsx › ___1

Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis.

Corton M et al.

Plos One, 2013

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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."