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
Impact of N221S missense mutation in human ribonucleotide reductase small subunit b on mitochondrial DNA depletion syndrome.
Su L et al.
Scientific Reports, 2023
The single nucleotide variant at c.662A>G in human RRM2B is a loss-of-function mutation.
Tseng YT et al.
Molecular Genetics & Genomic Medicine, 2020
A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death.
Penque BA et al.
European Journal of Medical Genetics, 2019
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