Varaico: Literature-Extracted Genetic Variants

Gene:CRB1
Variant:p.G169del1
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CRB1

NM_201253.3:p.G169del1

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

Foveal Hypoplasia in CRB1-Related Retinopathies.

Rodriguez-Martinez AC et al.

International Journal of Molecular Sciences, 2023

Chromatic Full-Field Stimulus Threshold and Pupillography as Functional Markers for Late-Stage, Early-Onset Retinitis Pigmentosa Caused by CRB1 Mutations.

Stingl KT et al.

Translational Vision Science & Technology, 2019

A clinical and molecular characterisation of CRB1-associated maculopathy.

Khan KN et al.

European Journal of Human Genetics : Ejhg, 2018

The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes.

Motta FL et al.

Scientific Reports, 2017

Retinal Dystrophies and the Road to Treatment: Clinical Requirements and Considerations.

Talib M et al.

Asia-pacific Journal of Ophthalmology (philadelphia, Pa.), 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."