Associated Papers
Geographic and age variations in mutational processes in colorectal cancer.
Díaz-Gay M et al.
Nature, 2025
40267983 (PubMed )
Supplement: 41586_2025_9025_MOESM3_ESM.xlsx › Supplementary_Table_55
Brain magnetic resonance imaging findings in Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): A case-based review.
Christodoulou MV et al.
Radiology Case Reports, 2025
39758336 (PubMed )
Supplement: mmc1.pdf
Geographic and age-related variations in mutational processes in colorectal cancer.
Díaz-Gay M et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40034755 (PubMed )
Supplement: media-5.xlsx › Supplementary_Note_Table_28
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
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.
Schon KR et al.
Bmj (clinical Research Ed.), 2021
RRM2B Is Frequently Amplified Across Multiple Tumor Types: Implications for DNA Repair, Cellular Survival, and Cancer Therapy.
Iqbal W et al.
Frontiers in Genetics, 2021
Mitochondrial DNA Depletion Syndrome and Its Associated Cardiac Disease.
Wang H et al.
Frontiers in Cardiovascular Medicine, 2021
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
Mitochondrial depletion causes neonatal-onset leigh syndrome, myopathy, and renal tubulopathy.
Lee IC et al.
Journal of Child Neurology, 2013
Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B.
Shaibani A et al.
Archives of Neurology, 2009
Defects in mitochondrial DNA replication and human disease.
Copeland WC
Critical Reviews in Biochemistry and Molecular Biology, 0
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