Varaico: Literature-Extracted Genetic Variants

Gene:PDP1
Variant:p.Q252*
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PDP1

NM_018444.4:p.Q252*

Associated Papers

Pyruvate dehydrogenase phosphatase 1 (PDP1) null mutation produces a lethal infantile phenotype.

Cameron JM et al.

Human Genetics, 2009

Gene therapy for inherited metabolic disorders in companion animals.

Koeberl DD et al.

Ilar Journal, 2009

Identification of a canine model of pyruvate dehydrogenase phosphatase 1 deficiency.

Cameron JM et al.

Molecular Genetics and Metabolism, 2007

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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."