Varaico: Literature-Extracted Genetic Variants

Gene:CRB2
Variant:p.R1249G
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CRB2

NM_173689.7:p.R1249G

Associated Papers

The versatile roles of retinal pigment epithelium in the pathophysiology of retinitis pigmentosa.

Ghanawi H et al.

Progress in Retinal and Eye Research, 2025

Six new cases of CRB2-related syndrome and a review of clinical findings in 28 reported patients.

Adutwum M et al.

Clinical Genetics, 2023

Crumbs homolog 2 mutation in two siblings with steroid-resistant nephrotic syndrome: Two case reports.

Lu J et al.

World Journal of Clinical Cases, 2021

Key Role for CRB2 in the Maintenance of Apicobasal Polarity in Retinal Pigment Epithelial Cells.

Paniagua AE et al.

Frontiers in Cell and Developmental Biology, 2021

Research Models and Gene Augmentation Therapy for CRB1 Retinal Dystrophies.

Boon N et al.

Frontiers in Neuroscience, 2020

CRB2 mutation causes autosomal recessive retinitis pigmentosa.

Chen X et al.

Experimental Eye Research, 2019

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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."