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Case Report: A Novel Missense Mutation c.517G>C in the UMPS..:
Rui Ma
;
Jing Ye
;
Jiaqi Han
...
https://www.frontiersin.org/articles/10.3389/fneur.2022.819116/full. , 2022
Link:
https://doi.org/10.3389/fneur.2022.819116
RT Journal T1 <Title>Case Report: A Novel Missense Mutation c.517G>C in the UMPS Gene Associated With Mild Orotic Aciduria</Title> UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:e7312330eb974954a4cfcaaa9f7d88c8&Exemplar=1&LAN=DE A1 Rui Ma A1 Jing Ye A1 Jiaqi Han A1 Lehong Gao A1 Chaodong Wang A1 Yuping Wang PB Frontiers Media S.A. YR 2022 K1 case report K1 orotic aciduria K1 UMPS K1 epilepsy K1 intellectual disability K1 Neurology. Diseases of the nervous system K1 RC346-429 JF https://www.frontiersin.org/articles/10.3389/fneur.2022.819116/full LK http://dx.doi.org/https://doi.org/10.3389/fneur.2022.819116 DO https://doi.org/10.3389/fneur.2022.819116 SF ELIB - SuUB Bremen
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