Varaico: Literature-Extracted Genetic Variants

Gene:NDP
Variant:p.Y120C
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NDP

NM_000266.4:p.Y120C

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

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

Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair.

Xu Q et al.

Cell, 2004

Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathy.

Shastry BS et al.

Human Mutation, 1997

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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."