Varaico: Literature-Extracted Genetic Variants

Gene:CRB1
Variant:p.G123C
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CRB1

NM_201253.3:p.G123C

Associated Papers

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

A clinical and molecular characterisation of CRB1-associated maculopathy.

Khan KN et al.

European Journal of Human Genetics : Ejhg, 2018

Biallelic Mutations in CRB1 Underlie Autosomal Recessive Familial Foveal Retinoschisis.

Vincent A et al.

Investigative Ophthalmology & Visual Science, 2016

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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."