Varaico: Literature-Extracted Genetic Variants

Gene:CRB1
Variant:p.G142*
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CRB1

NM_201253.3:p.G142*

Associated Papers

Prevalence and associated factors of cystoid macular edema in children with early onset inherited retinal dystrophies.

Ben-Avi R et al.

European Journal of Ophthalmology, 2022

A novel nonsense variant (c.1499C>G) in CRB1 caused Leber congenital amaurosis-8 in a Chinese family and a literature review.

Duan W et al.

Bmc Medical Genomics, 2022

Mutations in CRB1 are a relatively common cause of autosomal recessive early-onset retinal degeneration in the Israeli and Palestinian populations.

Beryozkin A et al.

Investigative Ophthalmology & Visual Science, 2013

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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."