Varaico: Literature-Extracted Genetic Variants

Gene:RRM2B
Variant:p.K151insFs
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RRM2B

NM_015713.5:p.K151insFs

Associated Papers

MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations.

El-Hattab AW et al.

Molecular Genetics and Metabolism, 2010

Hepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 gene.

AlSaman A et al.

Saudi Journal of Gastroenterology : Official Journal of the Saudi Gastroenterology Association, 0

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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."