Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.Y2566*
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USH2A

NM_206933.4:p.Y2566*

Associated Papers

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

Prevalence and genetic-phenotypic characteristics of patients with USH2A mutations in a large cohort of Chinese patients with inherited retinal disease.

Gao FJ et al.

The British Journal of Ophthalmology, 2021

32188678 (PubMed )
Supplement: bjophthalmol-2020-315878supp001.pdf

Identification of 13 novel USH2A mutations in Chinese retinitis pigmentosa and Usher syndrome patients by targeted next-generation sequencing.

Qu LH et al.

Bioscience Reports, 2020

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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."