Varaico: Literature-Extracted Genetic Variants

Gene:CRB1
Variant:p.E395*
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CRB1

NM_201253.3:p.E395*

Associated Papers

Novel Genotype-Phenotype Correlations in CRB1-Retinopathies: Insights from Isoforms and Protein Domains Linked to Disease Severity.

Rodriguez-Martinez AC et al.

Ophthalmology Science, 2026

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

Foveal Hypoplasia in CRB1-Related Retinopathies.

Rodriguez-Martinez AC et al.

International Journal of Molecular Sciences, 2023

CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History.

Daich Varela M et al.

American Journal of Ophthalmology, 2023

36099972 (PubMed )
Supplement: mmc4.pdf

Panel-based genetic testing for inherited retinal disease screening 176 genes.

Sheck LHN et al.

Molecular Genetics & Genomic Medicine, 2021

33749171 (PubMed )
Supplement: MGG3-9-e1663-s001.xlsx › new
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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."