Varaico: Literature-Extracted Genetic Variants

Gene:NDP
Variant:p.I123N
Back to variants list

NDP

NM_000266.4:p.I123N

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

Deciphering a crucial dimeric interface governing Norrin dimerization and the pathogenesis of familial exudative vitreoretinopathy.

Zhao R et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2024

Whole-Exome Sequencing Reveals Novel NDP Variants in X-Linked Familial Exudative Vitreoretinopathy.

Peng Y et al.

European Journal of Ophthalmology, 2022

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

Wawrzynski J et al.

Frontiers in Genetics, 2022

Structure and function of Norrin in assembly and activation of a Frizzled 4-Lrp5/6 complex.

Ke J et al.

Genes & Development, 2013

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."