Varaico: Literature-Extracted Genetic Variants

Gene:NEK8
Variant:p.R127*
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NEK8

NM_178170.3:p.R127*

Associated Papers

NEK8, a NIMA-family protein kinase at the core of the ciliary INV complex.

Roig J

Cell Communication and Signaling : Ccs, 2025

Renal-hepatic-pancreatic dysplasia type 2: Perinatal lethal condition or a multisystemic disorder with variable expressivity.

Gunther K et al.

Molecular Genetics & Genomic Medicine, 2023

Homozygous NEK8 Mutations in Siblings With Neonatal Cholestasis Progressing to End-stage Liver, Renal, and Cardiac Disease.

Hassan S et al.

Journal of Pediatric Gastroenterology and Nutrition, 2020

Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation.

Grampa V et al.

Plos 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."