Varaico: Literature-Extracted Genetic Variants

Gene:NDP
Variant:p.I18K
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NDP

NM_000266.4:p.I18K

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

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

Novel mutations in Norrie disease gene in Japanese patients with Norrie disease and familial exudative vitreoretinopathy.

Kondo H et al.

Investigative Ophthalmology & Visual Science, 2007

Familial Exudative Vitreoretinopathy With and Without Pathogenic Variants of Norrin/β-Catenin Signaling Genes.

Kondo H et al.

Ophthalmology Science, 0

38881609 (PubMed )
Supplement: mmc4.pdf
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