Varaico: Literature-Extracted Genetic Variants

Gene:NDP
Variant:p.G113D
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NDP

NM_000266.4:p.G113D

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

Mutation spectrum in a cohort with familial exudative vitreoretinopathy.

Qu N et al.

Molecular Genetics & Genomic Medicine, 2022

Familial Exudative Vitreoretinopathy-Related Disease-Causing Genes and Norrin/β-Catenin Signal Pathway: Structure, Function, and Mutation Spectrums.

Xiao H et al.

Journal of Ophthalmology, 2019

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

Mutation spectrum of the Norrie disease pseudoglioma (NDP) gene in Indian patients with FEVR.

Musada GR et al.

Molecular Vision, 2016

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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."