Varaico: Literature-Extracted Genetic Variants

Gene:PDHX
Variant:p.K341_Q342Splc
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PDHX

NM_003477.3:p.K341_Q342Splc

Associated Papers

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

A novel gross deletion caused by non-homologous recombination of the PDHX gene in a patient with pyruvate dehydrogenase deficiency.

Miné M et al.

Molecular Genetics and Metabolism, 0

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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."