Varaico: Literature-Extracted Genetic Variants

Gene:NDP
Variant:p.R109*
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NDP

NM_000266.4:p.R109*

Associated Papers

Ocular Features and Mutation Spectrum of Patients With Familial Exudative Vitreoretinopathy.

Tao T et al.

Investigative Ophthalmology & Visual Science, 2021

Norrie disease: extraocular clinical manifestations in 56 patients.

Smith SE et al.

American Journal of Medical Genetics. Part A, 2012

A novel nonsense mutation in the NDP gene in a Chinese family with Norrie disease.

Liu D et al.

Molecular Vision, 2010

SNPs: impact on gene function and phenotype.

Shastry BS

Methods in Molecular Biology (clifton, N.j.), 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."