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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MPV17

Variant:p.Q93R

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MPV17

NM_002437.5:p.Q93R

hg38:chr2:27312681 T>C

Associated Papers

Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan.

Akiyama N et al.

Scientific Reports, 2021

33574353 (PubMed )

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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."