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
The Clinical Utility of Genetic Testing in the Diagnosis and Management of Adults with Chronic Kidney Disease.
Dahl NK et al.
Journal of the American Society of Nephrology : Jasn, 2023
37794564 (PubMed )
Supplement: jasn-34-2039-s001.pdf
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
34503567 (PubMed )
Supplement: 13073_2021_964_MOESM6_ESM.xlsx › Sheet1
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
Phenotypic and Genotypic Heterogeneity of RRM2B Variants.
Finsterer J et al.
Neuropediatrics, 2018
The clinical and genetic characteristics in children with mitochondrial disease in China.
Fang F et al.
Science China. Life Sciences, 2017
Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics.
Pitceathly RD et al.
Brain : a Journal of Neurology, 2012
Kearns-Sayre syndrome caused by defective R1/p53R2 assembly.
Pitceathly RD et al.
Journal of Medical Genetics, 2011
RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions.
Fratter C et al.
Neurology, 2011
Select a paper to view details