Varaico: Literature-Extracted Genetic Variants

Gene:RRM2B
Variant:p.R40C
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RRM2B

NM_015713.5:p.R40C

Associated Papers

MSH3 is a genetic modifier of somatic repeat instability in X-linked dystonia parkinsonism.

Mejia Maza A et al.

American Journal of Human Genetics, 2026

41443196 (PubMed )
Supplement: mmc2.xlsx › Table_S12

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
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