Varaico: Literature-Extracted Genetic Variants

Gene:MPV17
Variant:p.V62_G63Splc
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MPV17

NM_002437.5:p.V62_G63Splc

Associated Papers

MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.

El-Hattab AW et al.

Human Mutation, 2018

Pathological alleles of MPV17 modeled in the yeast Saccharomyces cerevisiae orthologous gene SYM1 reveal their inability to take part in a high molecular weight complex.

Gilberti M et al.

Plos One, 2018

30273399 (PubMed )
Supplement: pone.0205014.s003.doc

Hepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 gene.

AlSaman A et al.

Saudi Journal of Gastroenterology : Official Journal of the Saudi Gastroenterology Association, 0

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