Varaico: Literature-Extracted Genetic Variants

Gene:NDP
Variant:p.L108P
Back to variants list

NDP

NM_000266.4:p.L108P

Associated Papers

Investigating the Impact of Dimer Interface Mutations on Norrin's Secretion and Norrin/β-Catenin Pathway Activation.

Liu M et al.

Investigative Ophthalmology & Visual Science, 2024

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

Wawrzynski J et al.

Frontiers in Genetics, 2022

The genetics of retinopathy of prematurity: a model for neovascular retinal disease.

Swan R et al.

Ophthalmology. Retina, 2018

Genetic variants of FZD4 and LRP5 genes in patients with advanced retinopathy of prematurity.

Kondo H et al.

Molecular Vision, 2013

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

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

Mutations of the Norrie gene in Korean ROP infants.

Kim JH et al.

Korean Journal of Ophthalmology : Kjo, 2002

De novo mutations in the 5' regulatory region of the Norrie disease gene in retinopathy of prematurity.

Talks SJ et al.

Journal of Medical Genetics, 2001

Retinopathy of prematurity: mutations in the Norrie disease gene and the risk of progression to advanced stages.

Haider MZ et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2001

Missense mutations in norrie disease gene are not associated with advanced stages of retinopathy of prematurity in Kuwaiti arabs.

Haider MZ et al.

Biology of the Neonate, 2000

A C597-->A polymorphism in the Norrie disease gene is associated with advanced retinopathy of prematurity in premature Kuwaiti infants.

Haider MZ et al.

Journal of Biomedical Science, 0

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

Dickinson JL et al.

Clinical & Experimental Ophthalmology, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."