Varaico: Literature-Extracted Genetic Variants

Gene:NDP
Variant:p.C96Y
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NDP

NM_000266.4:p.C96Y

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

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

Wawrzynski J et al.

Frontiers in Genetics, 2022

A novel c.287G>T NDP missense mutation in a Chinese family with Norrie disease.

Lin M et al.

Ophthalmic Genetics, 2020

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

The molecular basis of human retinal and vitreoretinal diseases.

Berger W et al.

Progress in Retinal and Eye Research, 2010

SNPs: impact on gene function and phenotype.

Shastry BS

Methods in Molecular Biology (clifton, N.j.), 2009

Norrie disease and exudative vitreoretinopathy in families with affected female carriers.

Shastry BS et al.

European Journal of Ophthalmology, 0

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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."