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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CRB1

Variant:p.A161fs

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CRB1

NM_201253.3:p.A161fs

hg38:chr1:197328832 G>GN

Associated Papers

CRB1 mutations in inherited retinal dystrophies.

Bujakowska K et al.

Human Mutation, 2012

22065545 (PubMed )

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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."