Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.R3317C
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USH2A

NM_206933.4:p.R3317C

Associated Papers

Genetic Spectrum of Negative Electroretinograms in a Predominantly Pediatric Cohort of 177 Patients.

Zaslavsky K et al.

Investigative Ophthalmology & Visual Science, 2025

41342616 (PubMed )
Supplement: iovs-66-15-19_s002.xlsx › SuppTable4

Cystoid Macular Edema in Non-Syndromic Retinitis Pigmentosa: Associations With Causative Genes in a Large Cohort.

Testa F et al.

Investigative Ophthalmology & Visual Science, 2025

40900079 (PubMed )
Supplement: iovs-66-12-5_s001.pdf

Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.

Reurink J et al.

Hgg Advances, 2023

Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.

Karali M et al.

Scientific Reports, 2022

36460718 (PubMed )
Supplement: 41598_2022_24636_MOESM2_ESM.xlsx › Supplementary_Table_S1
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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."