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PMM2-CDG caused by uniparental disomy: Case reportand liter..:
Vaes, Laurien
;
Tiller, George
;
Pérez González, María Belén
...
JIMD Reports. , 2023
Link:
http://hdl.handle.net/10486/708877
RT Journal T1
PMM2-CDG caused by uniparental disomy: Case reportand literature review
UL https://suche.suub.uni-bremen.de/peid=base-ftuamadrid:oai:repositorio.uam.es:10486_708877&Exemplar=1&LAN=DE A1 Vaes, Laurien A1 Tiller, George A1 Pérez González, María Belén A1 Boyer, Suzanne W A1 Berry, Susan A A1 Sarafoglou, Kyriakie A1 Morava, Eva PB John Wiley & Sons YR 2023 K1 CDG K1 Chromosome 16 K1 Congenital disorders of glycosylation K1 Homozygosity K1 PMM2-CDG K1 Uniparental isodisomy K1 Whole exome sequencing K1 Biología y Biomedicina / Biología JF JIMD Reports LK http://hdl.handle.net/10486/708877 DO http://hdl.handle.net/10486/708877 SF ELIB - SuUB Bremen
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