A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death - Concepedia

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A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death

30

Citations

14

References

2018

Year

Brent A. Penque, Leila Su, Jianghai Wang, Weizhen Ji, A. Bale, Frank Luh, Robert K. Fulbright, Uzair Sarmast, Annalisa G. Sega, Monica Konstantino,

European Journal of Medical Genetics

Metabolic SyndromeMetabolic DisorderGeneticsInherited Metabolic DiseasePhysiologySevere Metabolic AcidosisBiochemical GeneticsMetabolic RegulationMolecular GeneticsEarly Neonatal DeathHomozygous VariantMetabolismMedicineHealth Sciences

References

	Year	Citations

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