Varaico: Literature-Extracted Genetic Variants

Gene:NDP
Variant:p.E129*
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NDP

NM_000266.4:p.E129*

Associated Papers

Ocular findings and genomics of X-linked recessive disorders: A review.

Hassan A et al.

Indian Journal of Ophthalmology, 2022

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

Wawrzynski J et al.

Frontiers in Genetics, 2022

35651932 (PubMed )
Supplement: DataSheet1.XLSX › Sheet1

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

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