Varaico: Literature-Extracted Genetic Variants

Gene:NDP
Variant:p.A105T
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NDP

NM_000266.4:p.A105T

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

38517429 (PubMed )
Supplement: iovs-65-3-31_s001.pdf

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

Wawrzynski J et al.

Frontiers in Genetics, 2022

Novel Pathogenic Variant in the Cys110 Residue: A Genotype-Phenotype Report of a Patient with Norrie Disease.

Garcha J et al.

Journal of Pediatric Genetics, 2020

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

SNPs: impact on gene function and phenotype.

Shastry BS

Methods in Molecular Biology (clifton, N.j.), 2009

Molecular analysis of the NDP gene in two families with Norrie disease.

Rivera-Vega MR et al.

Acta Ophthalmologica Scandinavica, 2005

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

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

Two new missense mutations (A105T and C110G) in the norrin gene in two Italian families with Norrie disease and familial exudative vitreoretinopathy.

Torrente I et al.

American Journal of Medical Genetics, 1997

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

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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."