Varaico: Literature-Extracted Genetic Variants

Gene:NDP
Variant:p.R97P
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NDP

NM_000266.4:p.R97P

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

Familial cases of Norrie disease detected by copy number analysis.

Arai E et al.

Japanese Journal of Ophthalmology, 2014

Moderate reduction of Norrin signaling activity associated with the causative missense mutations identified in patients with familial exudative vitreoretinopathy.

Qin M et al.

Human Genetics, 2008

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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