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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RPGRIP1

Variant:p.L762fs

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RPGRIP1

NM_020366.4:p.L762fs

hg38:chr14:21325300 CTA>N

Associated Papers

Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.

Watson CM et al.

Plos One, 2014

25133751 (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."