Varaico: Literature-Extracted Genetic Variants

Gene:PDXK
Variant:p.K76N
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PDXK

NM_003681.5:p.K76N

Associated Papers

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

Ghatge MS et al.

Biochimie, 2021

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."