Varaico: Literature-Extracted Genetic Variants

Gene:NDP
Variant:p.R41S
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NDP

NM_000266.4:p.R41S

Associated Papers

Structure and functional properties of Norrin mimic Wnt for signalling with Frizzled4, Lrp5/6, and proteoglycan.

Chang TH et al.

Elife, 2015

Norrie disease: first mutation report and prenatal diagnosis in an Indian family.

Ghosh M et al.

Indian Journal of Pediatrics, 2012

Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP.

Nikopoulos K et al.

Human Mutation, 2010

Novel and recurrent NDP gene mutations in familial cases of Norrie disease and X-linked exudative vitreoretinopathy.

Pelcastre EL et al.

Clinical & Experimental Ophthalmology, 2010

Advanced bilateral persistent fetal vasculature associated with a novel mutation in the Norrie gene.

Dhingra S et al.

The British Journal of Ophthalmology, 2006

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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."