Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.R2853Splc
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USH2A

NM_206933.4:p.R2853Splc

Associated Papers

Phenotypic and Genotypic Characterization of 171 Patients with Syndromic Inherited Retinal Diseases Highlights the Importance of Genetic Testing for Accurate Clinical Diagnosis.

Kulyamzin S et al.

Genes, 2025

40725402 (PubMed )
Supplement: genes-16-00745-s001.zip › Supplementary_Table_S1.xlsx › Sheet1

Novel compound heterozygous variants in the USH2A gene associated with autosomal recessive retinitis pigmentosa without hearing loss.

Huang Y et al.

Frontiers in Cell and Developmental Biology, 2023

The Genetics of Usher Syndrome in the Israeli and Palestinian Populations.

Khalaileh A et al.

Investigative Ophthalmology & Visual Science, 2018

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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."