Varaico: Literature-Extracted Genetic Variants

Gene:CRB1
Variant:p.E806_S810del5
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CRB1

NM_201253.3:p.E806_S810del5

Associated Papers

Clinical and Genetic Characterization of RDH12-Retinal Dystrophy in a South American Cohort.

Daich Varela M et al.

Ophthalmology. Retina, 2024

Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes.

Coppieters F et al.

Human Mutation, 2010

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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."