Associated Papers
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
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
Impact of N221S missense mutation in human ribonucleotide reductase small subunit b on mitochondrial DNA depletion syndrome.
Su L et al.
Scientific Reports, 2023
Prediction of the Impact of Deleterious Nonsynonymous Single Nucleotide Polymorphisms on the Human RRM2B Gene: A Molecular Modeling Study.
Ait El Cadi C et al.
Biomed Research International, 2020
Phenotypic and Genotypic Heterogeneity of RRM2B Variants.
Finsterer J et al.
Neuropediatrics, 2018
Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease.
Martikainen MH et al.
Jama Neurology, 2016
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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