Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.Q2741_V2742Splc
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USH2A

NM_206933.4:p.Q2741_V2742Splc

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

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

[Analysis of pathogenic variants of USH2A gene in a child with Usher syndrome type II].

Tang K et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2021

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
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