Varaico: Literature-Extracted Genetic Variants

Gene:MPC1
Variant:p.A58G
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MPC1

NM_016098.4:p.A58G

Associated Papers

Identification and characterization of novel MPC1 gene variants causing mitochondrial pyruvate carrier deficiency.

Jiang H et al.

Journal of Inherited Metabolic Disease, 2022

Two human patient mitochondrial pyruvate carrier mutations reveal distinct molecular mechanisms of dysfunction.

Oonthonpan L et al.

Jci Insight, 2019

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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."