Varaico: Literature-Extracted Genetic Variants

Gene:NDP
Variant:p.A105E
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NDP

NM_000266.4:p.A105E

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

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

Next-generation sequencing and novel variant determination in a cohort of 92 familial exudative vitreoretinopathy patients.

Salvo J et al.

Investigative Ophthalmology & Visual Science, 2015

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

Liu D et al.

Molecular Vision, 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."