Varaico: Literature-Extracted Genetic Variants

Gene:PDXK
Variant:p.N75K
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PDXK

NM_003681.5:p.N75K

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

Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease.

Keller N et al.

Human Mutation, 2021

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

Keller N et al.

Neuromuscular Disorders : Nmd, 2020

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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."