Varaico: Literature-Extracted Genetic Variants

Gene:CRB1
Variant:p.Q679E
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CRB1

NM_201253.3:p.Q679E

Associated Papers

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix

CRB1 mutation spectrum in inherited retinal dystrophies.

den Hollander AI et al.

Human Mutation, 2004

Study of the involvement of the RGR, CRPB1, and CRB1 genes in the pathogenesis of autosomal recessive retinitis pigmentosa.

Bernal S et al.

Journal of Medical Genetics, 2003

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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."