Varaico: Literature-Extracted Genetic Variants

Gene:CRB1
Variant:p.P701S
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CRB1

NM_201253.3:p.P701S

Associated Papers

Cystoid Macular Lesions in Inherited Retinal Diseases: Prevalence, Characteristics, and Genetic Associations in a Hungarian Cohort.

Asboth B et al.

Genes, 2025

Retinitis Pigmentosa with EYS Mutations Is the Most Prevalent Inherited Retinal Dystrophy in Japanese Populations.

Arai Y et al.

Journal of Ophthalmology, 2015

26161267 (PubMed )
Supplement: 819760.f1.pdf

Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis.

Li L et al.

Plos One, 2011

21602930 (PubMed )
Supplement: pone.0019458.s005.xls › Sheet1

Molecular characterization of Leber congenital amaurosis in Koreans.

Seong MW et al.

Molecular Vision, 2008

An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy.

Henderson RH et al.

Investigative Ophthalmology & Visual Science, 2007

Analysis of three genes in Leber congenital amaurosis in Indonesian patients.

Sitorus RS et al.

Vision Research, 2003

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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."