Varaico: Literature-Extracted Genetic Variants

Gene:NDP
Variant:p.Y44C
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NDP

NM_000266.4:p.Y44C

Associated Papers

Spectrum of Mutations in NDP Resulting in Ocular Disease; a Systematic Review.

Wawrzynski J et al.

Frontiers in Genetics, 2022

Whole exome sequencing revealed novel pathogenic variants in Vietnamese patients with FEVR.

Trang DT et al.

Molecular Vision, 2022

A Novel Mutation in the NDP Gene is Associated with Familial Exudative Vitreoretinopathy in a Southern Chinese Family.

Bao Y et al.

Genetic Testing and Molecular Biomarkers, 2019

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

NDP gene mutations in 14 French families with Norrie disease.

Royer G et al.

Human Mutation, 2003

Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity.

Dickinson JL et al.

Clinical & Experimental Ophthalmology, 0

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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."