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The First Case of Congenital Myasthenic Syndrome Caused by ..:
Laforgia, Nicola
;
De Cosmo, Lucrezia
;
Palumbo, Orazio
...
Genes. 11 (2020) 12 - p. 1519 , 2020
Link:
https://doi.org/10.3390/genes11121519
RT Journal T1
The First Case of Congenital Myasthenic Syndrome Caused by a Large Homozygous Deletion in the C-Terminal Region of COLQ (Collagen Like Tail Subunit of Asymmetric Acetylcholinesterase) Protein
UL https://suche.suub.uni-bremen.de/peid=cr-10.3390_genes11121519&Exemplar=1&LAN=DE A1 Laforgia, Nicola A1 De Cosmo, Lucrezia A1 Palumbo, Orazio A1 Ranieri, Carlotta A1 Sesta, Michela A1 Capodiferro, Donatella A1 Pantaleo, Antonino A1 Iapicca, Pierluigi A1 Lastella, Patrizia A1 Capozza, Manuela A1 Schettini, Federico A1 Bukvic, Nenad A1 Bagnulo, Rosanna A1 Resta, Nicoletta PB MDPI AG YR 2020 SN 2073-4425 JF Genes VO 11 IS 12 SP 1519 LK http://dx.doi.org/https://doi.org/10.3390/genes11121519 DO https://doi.org/10.3390/genes11121519 SF ELIB - SuUB Bremen
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