Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.R274G
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USH2A

NM_206933.4:p.R274G

Associated Papers

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.

Panneman DM et al.

Frontiers in Cell and Developmental Biology, 2023

36819107 (PubMed )
Supplement: Table4.xlsx › Results

Novel biallelic USH2A variants in a patient with usher syndrome type IIA- a case report.

Young SL et al.

Bmc Ophthalmology, 2022

35346118 (PubMed )
Supplement: 12886_2022_2353_MOESM2_ESM.xlsx › ClinVar_results_with_predictors

Clinical and preclinical therapeutic outcome metrics for USH2A-related disease.

Toms M et al.

Human Molecular Genetics, 2020

31998945 (PubMed )
Supplement: toms_et_al_supplementary_material_ddaa004.pdf
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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."