Varaico: Literature-Extracted Genetic Variants

Gene:MPV17
Variant:p.K88M
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MPV17

NM_002437.5:p.K88M

Associated Papers

Mitochondrial Parkinsonism: A Practical Guide to Genes and Clinical Diagnosis.

Lopriore P et al.

Movement Disorders Clinical Practice, 2024

Genotypic and phenotypic heterogeneity among Chinese pediatric genetic white matter disorders.

Dong L et al.

Italian Journal of Pediatrics, 2023

Parkinson's Disease, Parkinsonisms, and Mitochondria: the Role of Nuclear and Mitochondrial DNA.

Legati A et al.

Current Neurology and Neuroscience Reports, 2023

Nuclear Genes Associated with Mitochondrial DNA Processes as Contributors to Parkinson's Disease Risk.

Müller-Nedebock AC et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2021

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

MPV17 Mutations Causing Adult-Onset Multisystemic Disorder With Multiple Mitochondrial DNA Deletions.

Garone C et al.

Archives of Neurology, 2012

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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."