Varaico: Literature-Extracted Genetic Variants

Gene:IQCB1
Variant:p.R435C
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IQCB1

NM_001023570.4:p.R435C

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 )
Supplement: pone.0104281.s001.pdf

Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome.

Stone EM et al.

Archives of Ophthalmology (chicago, Ill. : 1960), 2011

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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."