Varaico: Literature-Extracted Genetic Variants

Gene:NDP
Variant:p.C131*
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NDP

NM_000266.4:p.C131*

Associated Papers

Genotype-Phenotype Spectrum of eyeGENE Patients With Familial Exudative Vitreoretinopathy: Novel Variants in Norrin/β-Catenin Signaling Pathway Genes.

Yaylacioglu Tuncay F et al.

Investigative Ophthalmology & Visual Science, 2025

39903177 (PubMed )
Supplement: iovs-66-2-9_s001.xlsx › Sayfa1

Prenatal diagnosis of Norrie disease after whole exome sequencing of an affected proband during an ongoing pregnancy: a case report.

Marakhonov AV et al.

Bmc Medical Genetics, 2020

Next-generation sequencing and novel variant determination in a cohort of 92 familial exudative vitreoretinopathy patients.

Salvo J et al.

Investigative Ophthalmology & Visual Science, 2015

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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."