Varaico: Literature-Extracted Genetic Variants

Gene:NDP
Variant:p.P98L
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NDP

NM_000266.4:p.P98L

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

Deciphering a crucial dimeric interface governing Norrin dimerization and the pathogenesis of familial exudative vitreoretinopathy.

Zhao R et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2024

Novel mutation in the NDP gene associated with Norrie disease in a Chinese pedigree.

Jiang K et al.

Molecular Genetics & Genomic Medicine, 2024

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

Wawrzynski J et al.

Frontiers in Genetics, 2022

Next-generation sequencing reveals a novel NDP gene mutation in a Chinese family with Norrie disease.

Huang X et al.

Indian Journal of Ophthalmology, 2017

Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma.

Deml B et al.

European Journal of Human Genetics : Ejhg, 2016

[Analysis of the NDP gene in a Chinese family with X-linked recessive Norrie disease].

Mei L et al.

[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2015

A novel nonsense mutation in the NDP gene in a Chinese family with Norrie disease.

Liu D et al.

Molecular Vision, 2010

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

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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."