Varaico: Literature-Extracted Genetic Variants

Gene:RPGRIP1
Variant:p.I838V
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RPGRIP1

NM_020366.4:p.I838V

Associated Papers

Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma.

Fernández-Martínez L et al.

European Journal of Human Genetics : Ejhg, 2011

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.s005.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."