Varaico: Literature-Extracted Genetic Variants

Gene:MPV17
Variant:p.E39_Q47delFs
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MPV17

NM_002437.5:p.E39_Q47delFs

Associated Papers

Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene.

Uusimaa J et al.

European Journal of Human Genetics : Ejhg, 2014

Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy.

Wong LJ et al.

Hepatology (baltimore, Md.), 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."