Varaico: Literature-Extracted Genetic Variants

Gene:CRB1
Variant:p.Q515*
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CRB1

NM_201253.3:p.Q515*

Associated Papers

Detailed Comparison Between Two Main Phenotypes of CRB1-Related Retinal Dystrophy, Pan-retinopathy and Maculopathy.

Zou X et al.

Investigative Ophthalmology & Visual Science, 2025

Genotype-Phenotype of CRB1-Associated Early-Onset Retinal Dystrophy: Novel Insights on Retinal Architecture and Therapeutic Window for Clinical Trials.

Jin Y et al.

Investigative Ophthalmology & Visual Science, 2024

RPE65 mutation frequency and phenotypic variation according to exome sequencing in a tertiary centre for genetic eye diseases in China.

Li S et al.

Acta Ophthalmologica, 2020

Clonal architectures and driver mutations in metastatic melanomas.

Ding L et al.

Plos One, 2014

25393105 (PubMed )
Supplement: pone.0111153.s002.zip › File_S2 › Table_S11.xls › Supp_Table_11

Hypomorphic variants in inherited retinal and ocular diseases: A review of the literature with clinical cases.

Thuma TBT et al.

Survey of Ophthalmology, 0

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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."