Varaico: Literature-Extracted Genetic Variants

Gene:RRM2B
Variant:p.N322fs
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RRM2B

NM_015713.5:p.N322fs

Associated Papers

Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics.

Pitceathly RD et al.

Brain : a Journal of Neurology, 2012

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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."