Varaico: Literature-Extracted Genetic Variants

Gene:CRB1
Variant:p.E806*
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CRB1

NM_201253.3:p.E806*

Associated Papers

Updating the Genetic Landscape of Inherited Retinal Dystrophies.

García Bohórquez B et al.

Frontiers in Cell and Developmental Biology, 2021

High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population.

Corton M et al.

Orphanet Journal of Rare Diseases, 2013

23379534 (PubMed )
Supplement: 1750-1172-8-20-S2.pdf
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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."