Varaico: Literature-Extracted Genetic Variants

Gene:RRM1
Variant:p.R381H
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RRM1

NM_001033.5:p.R381H

Associated Papers

RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis.

Shintaku J et al.

The Journal of Clinical Investigation, 2022

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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."