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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RPGRIP1

Variant:p.L754delFs

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RPGRIP1

NM_020366.4:p.L754delFs

hg38:chr14:21325276 CT>C

Associated Papers

Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis.

Li L et al.

Plos One, 2011

21602930 (PubMed )

Supplement: pone.0019458.s003.xls › Sheet1

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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."