Varaico: Literature-Extracted Genetic Variants

Gene:NDP
Variant:p.V45E
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NDP

NM_000266.4:p.V45E

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

Identification of Gene Mutations in Atypical Retinopathy of Prematurity Cases.

Li Y et al.

Journal of Ophthalmology, 2020

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

Chang TH et al.

Elife, 2015

SNPs: impact on gene function and phenotype.

Shastry BS

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

A novel missense mutation in the NDP gene in a child with Norrie disease and severe neurological involvement including infantile spasms.

Lev D et al.

American Journal of Medical Genetics. Part A, 2007

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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."