Varaico: Literature-Extracted Genetic Variants

Gene:MPV17
Variant:p.P98delFs
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MPV17

NM_002437.5:p.P98delFs

Associated Papers

Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.

Gorman E et al.

Frontiers in Genetics, 2025

40110048 (PubMed )
Supplement: Table2.xlsx › Supplementary_Table_2

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

El-Hattab AW et al.

Human Mutation, 2018

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