Varaico: Literature-Extracted Genetic Variants

Gene:NDP
Variant:p.H42R
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NDP

NM_000266.4:p.H42R

Associated Papers

A Survey of Multigenic Protein-Altering Variant Frequency in Familial Exudative Vitreo-Retinopathy (FEVR) Patients by Targeted Sequencing of Seven FEVR-Linked Genes.

Cicerone AP et al.

Genes, 2022

A novel missense mutation of NDP in a Chinese family with X-linked familial exudative vitreoretinopathy.

Liu HY et al.

Journal of the Chinese Medical Association : Jcma, 2016

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

Genetic evaluation to establish the diagnosis of X-linked familial exudative vitreoretinopathy.

Drenser KA et al.

Ophthalmic Genetics, 2006

Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair.

Xu Q et al.

Cell, 2004

Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathy.

Shastry BS et al.

Human Mutation, 1997

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."