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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MPV17

Variant:p.E45D

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MPV17

NM_002437.5:p.E45D

hg38:chr2:27313045 T>G

Associated Papers

Nucleotide pools dictate the identity and frequency of ribonucleotide incorporation in mitochondrial DNA.

Berglund AK et al.

Plos Genetics, 2017

28207748 (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."