Varaico: Literature-Extracted Genetic Variants

Gene:NDP
Variant:p.M1R
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NDP

NM_000266.4:p.M1R

Associated Papers

5' UTR variant in the NDP gene leads to incorrect splicing and familial exudative vitreoretinopathy.

Liu S et al.

Orphanet Journal of Rare Diseases, 2025

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

Wawrzynski J et al.

Frontiers in Genetics, 2022

A novel c.2T>A NDP missense mutation in a Chinese family with Norrie disease.

Fangting L et al.

Acta Ophthalmologica, 2016

A novel Norrie disease pseudoglioma gene mutation, c.-1_2delAAT, responsible for Norrie disease in a Chinese family.

Zhang XY et al.

International Journal of Ophthalmology, 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

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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."