Varaico: Literature-Extracted Genetic Variants

Gene:NDP
Variant:p.S111*
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NDP

NM_000266.4:p.S111*

Associated Papers

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

Jiang K et al.

Molecular Genetics & Genomic Medicine, 2024

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

[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."