Varaico: Literature-Extracted Genetic Variants

Gene:NADK2
Variant:p.W319fs
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NADK2

NM_001085411.3:p.W319fs

Associated Papers

Mouse models of NADK2 deficiency analyzed for metabolic and gene expression changes to elucidate pathophysiology.

Murray GC et al.

Human Molecular Genetics, 2022

Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a NADK2 start loss variant.

Pomerantz DJ et al.

American Journal of Medical Genetics. Part A, 2018

Lysine Restriction and Pyridoxal Phosphate Administration in a NADK2 Patient.

Tort F et al.

Pediatrics, 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."