Varaico: Literature-Extracted Genetic Variants

Gene:NDP
Variant:p.E66K
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NDP

NM_000266.4:p.E66K

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

Mutation Spectrum of the LRP5, NDP, and TSPAN12 Genes in Chinese Patients With Familial Exudative Vitreoretinopathy.

Tang M et al.

Investigative Ophthalmology & Visual Science, 2017

A novel NDP mutation in an infant with unilateral persistent fetal vasculature and retinal vasculopathy.

Aponte EP et al.

Ophthalmic Genetics, 2009

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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."