Varaico: Literature-Extracted Genetic Variants

Gene:SARDH
Variant:p.G78_T81del0
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SARDH

NM_001134707.2:p.G78_T81del0

Associated Papers

MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations.

El-Hattab AW et al.

Molecular Genetics and Metabolism, 2010

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."