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
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants
SNPs: impact on gene function and phenotype.
Shastry BS
Methods in Molecular Biology (clifton, N.j.), 2009
Norrie disease gene mutation in a large Costa Rican kindred with a novel phenotype including venous insufficiency.
Rehm HL et al.
Human Mutation, 1997
Identification of two new missense mutations (K58N and R121Q) in the Norrie disease (ND) gene in two Spanish families.
Fuentes JJ et al.
Human Molecular Genetics, 1993
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