Varaico: Literature-Extracted Genetic Variants

Gene:CRB1
Variant:p.G750D
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CRB1

NM_201253.3:p.G750D

Associated Papers

CRB1 mutations cause structural and molecular defects in patient-derived retinal pigment epithelium cells.

Wang Y et al.

Experimental Eye Research, 2025

Application of patient-derived induced pluripotent stem cells and organoids in inherited retinal diseases.

Liang Y et al.

Stem Cell Research & Therapy, 2023

Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.

Karali M et al.

Scientific Reports, 2022

36460718 (PubMed )
Supplement: 41598_2022_24636_MOESM2_ESM.xlsx › Supplementary_Table_S1

Establishment of induced pluripotent stem cell line CSUASOi003- A from an autosomal recessive retinitis pigmentosa patient carrying compound heterozygous mutations in CRB1 gene.

Zhou Y et al.

Stem Cell Research, 2020

Anti-γ-enolase autoimmune retinopathy manifesting in early childhood.

Ko AC et al.

Archives of Ophthalmology (chicago, Ill. : 1960), 2010

Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture.

Stone EM

American Journal of Ophthalmology, 2007

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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."