Varaico: Literature-Extracted Genetic Variants

Gene:NEK1
Variant:p.L253S
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NEK1

NM_001199397.3:p.L253S

Associated Papers

Cilia kinases in skeletal development and homeostasis.

Abraham SP et al.

Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2022

NEK1 kinase domain structure and its dynamic protein interactome after exposure to Cisplatin.

Melo-Hanchuk TD et al.

Scientific Reports, 2017

Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations.

Wang Z et al.

Journal of Human Genetics, 2017

Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome).

Monroe GR et al.

European Journal of Human Genetics : Ejhg, 2016

NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.

El Hokayem J et al.

Journal of Medical Genetics, 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."