Varaico: Literature-Extracted Genetic Variants

Gene:CRB1
Variant:p.C152Y
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CRB1

NM_201253.3:p.C152Y

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

Elevated Visual Crowding in CRB1-Associated Retinopathies: Understanding Functional Visual Deficits Using Child-Friendly Computerized Testing.

Rodriguez-Martinez AC et al.

Investigative Ophthalmology & Visual Science, 2025

Assessment of CRB1-Associated Retinopathies Using the S-MAIA Fast Protocol and Spectral-Domain Optical Coherence Tomography.

Higgins BE et al.

Biomedicines, 2025

Assessing Contrast Sensitivity Function in CRB1-Retinopathies: Exploring Child-Friendly Measures of Visual Function.

Rodriguez-Martinez AC et al.

Translational Vision Science & Technology, 2024

Foveal Hypoplasia in CRB1-Related Retinopathies.

Rodriguez-Martinez AC et al.

International Journal of Molecular Sciences, 2023

Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Cong PK et al.

Nature Communications, 2022

35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2

ConVarT: a search engine for matching human genetic variants with variants from non-human species.

Pir MS et al.

Nucleic Acids Research, 2022

34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S12.xls › Sheet1

Mutations in CRB1 are a relatively common cause of autosomal recessive early-onset retinal degeneration in the Israeli and Palestinian populations.

Beryozkin A et al.

Investigative Ophthalmology & Visual Science, 2013

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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."