Varaico: Literature-Extracted Genetic Variants

Gene:NDP
Variant:p.C55Y
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NDP

NM_000266.4:p.C55Y

Associated Papers

Clinical Exome Sequencing Identifies NDP Gene Variants in Two Chinese Families with X-Linked Norrie Disease.

Zhao X et al.

Genetic Testing and Molecular Biomarkers, 2022

Spectrum of Mutations in NDP Resulting in Ocular Disease; a Systematic Review.

Wawrzynski J et al.

Frontiers in Genetics, 2022

Spectrum of Variants in 389 Chinese Probands With Familial Exudative Vitreoretinopathy.

Li JK et al.

Investigative Ophthalmology & Visual Science, 2018

Screening for NDP mutations in 44 unrelated patients with familial exudative vitreoretinopathy or Norrie disease.

Yang H et al.

Current Eye Research, 2012

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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."