Varaico: Literature-Extracted Genetic Variants

Gene:NEK9
Variant:p.R497*
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NEK9

NM_033116.6:p.R497*

Associated Papers

Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex.

Falb RJ et al.

Journal of Medical Genetics, 2023

Cilia kinases in skeletal development and homeostasis.

Abraham SP et al.

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

Novel variants of NEK9 associated with neonatal arthrogryposis: Two case reports and a literature review.

Liu F et al.

Frontiers in Genetics, 2022

NEK9 regulates primary cilia formation by acting as a selective autophagy adaptor for MYH9/myosin IIA.

Yamamoto Y et al.

Nature Communications, 2021

Mitotic Regulation by NEK Kinase Networks.

Fry AM et al.

Frontiers in Cell and Developmental Biology, 2017

Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects.

Casey JP et al.

Human Molecular Genetics, 2016

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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."