Varaico: Literature-Extracted Genetic Variants

Gene:PDXK
Variant:p.A228T
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PDXK

NM_003681.5:p.A228T

Associated Papers

The Therapeutic Potential of Vitamins B1, B3 and B6 in Charcot-Marie-Tooth Disease with the Compromised Status of Vitamin-Dependent Processes.

Bunik V

Biology, 2023

A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.

Megarbane A et al.

Journal of Neuromuscular Diseases, 2022

Inborn errors in the vitamin B6 salvage enzymes associated with neonatal epileptic encephalopathy and other pathologies.

Ghatge MS et al.

Biochimie, 2021

Hereditary polyneuropathy with optic atrophy due to PDXK variant leading to impaired Vitamin B6 metabolism.

Keller N et al.

Neuromuscular Disorders : Nmd, 2020

PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.

Chelban V et al.

Annals of Neurology, 2019

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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."