Varaico: Literature-Extracted Genetic Variants

Gene:CRB1
Variant:p.N24Splc
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CRB1

NM_201253.3:p.N24Splc

Associated Papers

Molecular characterization of Leber congenital amaurosis in Koreans.

Seong MW et al.

Molecular Vision, 2008

CRB1 mutation spectrum in inherited retinal dystrophies.

den Hollander AI et al.

Human Mutation, 2004

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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."