Varaico: Literature-Extracted Genetic Variants

Gene:PDK3
Variant:p.H168N
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PDK3

NM_005391.5:p.H168N

Associated Papers

Unveiling the clinical and electrophysiological profile of CMTX6: Insights from two Brazilian families.

Maciel VAZ et al.

Journal of the Peripheral Nervous System : Jpns, 2023

Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.

Dohrn MF et al.

Journal of Neurochemistry, 2017

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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."