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Homozygous Missense Variants in NTNG2, Encoding a Presynapt..:
Dias C. M
;
Punetha J
;
Zheng C
...
info:eu-repo/semantics/altIdentifier/pmid/31668703. , 2019
Link:
http://hdl.handle.net/11567/1028585
RT Journal T1
Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder
UL https://suche.suub.uni-bremen.de/peid=base-ftunivgenova:oai:iris.unige.it:11567_1028585&Exemplar=1&LAN=DE A1 Dias C. M A1 Punetha J A1 Zheng C A1 Mazaheri N A1 Rad A A1 Efthymiou S A1 Petersen A A1 Dehghani M A1 Pehlivan D A1 Partlow J. N A1 Posey J. E A1 Vincenzo Salpietro A1 Gezdirici A A1 Malamiri R. A A1 Al Menabawy N. M A1 Selim L. A A1 Vahidi Mehrjardi M. Y A1 Banu S A1 Polla D. L A1 Yang E A1 Rezazadeh Varaghchi J A1 Mitani T A1 van Beusekom E A1 Najafi M A1 Sedaghat A A1 Keller-Ramey J A1 Durham L A1 Coban-Akdemir Z A1 Karaca E A1 Orlova V A1 Schaeken L. L. M A1 Sherafat A A1 Jhangiani S. N A1 Stanley V A1 Shariati G A1 Galehdari H A1 Gleeson J. G A1 Walsh C. A A1 Lupski J. R A1 Seiradake E A1 Houlden H A1 van Bokhoven H A1 Maroofian R PB Cell Press; country:USA; place:50 HAMPSHIRE ST, FLOOR 5, CAMBRIDGE, MA 02139 USA YR 2019 K1 autism K1 developmental delay K1 intellectual disability K1 neurodevelopmental disorder K1 NTNG2 K1 Adolescent K1 Adult K1 Child K1 Preschool K1 Exome K1 Female K1 GPI-Linked Protein K1 Homozygote K1 Human K1 Male K1 Mutation K1 Missense K1 Netrin K1 Pedigree K1 Whole Exome Sequencing K1 Young Adult JF info:eu-repo/semantics/altIdentifier/pmid/31668703 LK http://hdl.handle.net/11567/1028585 DO http://hdl.handle.net/11567/1028585 SF ELIB - SuUB Bremen
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