Varaico: Literature-Extracted Genetic Variants

Gene:NEK2
Variant:p.L206fs
Back to variants list

NEK2

NM_002497.4:p.L206fs

Associated Papers

Clinical characteristics of high myopia in female carriers of pathogenic RPGR mutations: a case series and review of the literature.

Tran M et al.

Ophthalmic Genetics, 2023

Unravelling the genetics of inherited retinal dystrophies: Past, present and future.

Broadgate S et al.

Progress in Retinal and Eye Research, 2017

Genetics in Retinal Diseases.

Riaz M et al.

Developments in Ophthalmology, 2016

Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene.

Nishiguchi KM et al.

Proceedings of the National Academy of Sciences of the United States of America, 2013

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."