Varaico: Literature-Extracted Genetic Variants

Gene:NDP
Variant:p.C126S
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NDP

NM_000266.4:p.C126S

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

Norrie-Warburg syndrome: two novel mutations in patients with classical clinical phenotype.

Gal A et al.

Acta Ophthalmologica Scandinavica. Supplement, 1996

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