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
Saccharomyces cerevisiae as a Tool for Studying Mutations in Nuclear Genes Involved in Diseases Caused by Mitochondrial DNA Instability.
Gilea AI et al.
Genes, 2021
The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency.
Keshavan N et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
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
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
Exome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegia.
Takata A et al.
Genome Biology, 2011
Clinical and molecular features of mitochondrial DNA depletion syndromes.
Spinazzola A et al.
Journal of Inherited Metabolic Disease, 2009
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