Varaico: Literature-Extracted Genetic Variants

Gene:PDHX
Variant:p.K394_A395Splc
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PDHX

NM_003477.3:p.K394_A395Splc

Associated Papers

Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defects.

Ferriero R et al.

Annals of Clinical and Translational Neurology, 2014

Pyruvate dehydrogenase deficiency caused by a new mutation of PDHX gene in two Moroccan patients.

Tajir M et al.

European Journal of Medical Genetics, 2012

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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."