Varaico: Literature-Extracted Genetic Variants

Gene:NDP
Variant:p.A118D
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NDP

NM_000266.4:p.A118D

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

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

Norrie disease and exudative vitreoretinopathy in families with affected female carriers.

Shastry BS et al.

European Journal of Ophthalmology, 0

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