Varaico: Literature-Extracted Genetic Variants

Gene:CRB1
Variant:p.C157S
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CRB1

NM_201253.3:p.C157S

Associated Papers

A Phenotypic Study of CRB1 Retinopathy Secondary to the Variant p.(Pro836Thr) Prevalent in Those of Black African Ancestry.

Wong WM 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

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix

CRB1 mutations in inherited retinal dystrophies.

Bujakowska K et al.

Human Mutation, 2012

Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1.

Henderson RH et al.

The British Journal of Ophthalmology, 2011

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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."