Varaico: Literature-Extracted Genetic Variants

Gene:NEK8
Variant:p.T348M
Back to variants list

NEK8

NM_178170.3:p.T348M

Associated Papers

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

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."