Varaico: Literature-Extracted Genetic Variants

Gene:CRB1
Variant:p.C438Y
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CRB1

NM_201253.3:p.C438Y

Associated Papers

Exploring the Genetic Causes of Nonsyndromic Retinal Dystrophies in Qatar.

Abiib S et al.

Genes, 2025

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

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

Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies.

Di Iorio V et al.

Genes, 2017

CRB1 mutations in inherited retinal dystrophies.

Bujakowska K et al.

Human Mutation, 2012

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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."