Varaico: Literature-Extracted Genetic Variants

Gene:MPV17
Variant:p.R154M
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MPV17

NM_002437.5:p.R154M

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

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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."