Associated Papers
Case Report: A novel RRM2B variant in a Chinese infant with mitochondrial DNA depletion syndrome and collective analyses of RRM2B variants for disease etiology.
Wang Y et al.
Frontiers in Pediatrics, 2024
38737634 (PubMed )
Supplement: Datasheet1.pdf
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM8_ESM.xlsx › SD4_-_HGMD_Mutations
Phenotypic and Genotypic Heterogeneity of RRM2B Variants.
Finsterer J et al.
Neuropediatrics, 2018
Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause.
Theunissen TEJ et al.
Frontiers in Genetics, 2018
A novel immunofluorescent assay to investigate oxidative phosphorylation deficiency in mitochondrial myopathy: understanding mechanisms and improving diagnosis.
Rocha MC et al.
Scientific Reports, 2015
Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics.
Pitceathly RD et al.
Brain : a Journal of Neurology, 2012
RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions.
Fratter C et al.
Neurology, 2011
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