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1 Ergebnisse
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A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Medi..:
EuroEPINOMICS-RES Consortium
;
GRIN Consortium
;
Helbig, Ingo
...
10.1016/j.ajhg.2019.04.001. , 2021
Link:
http://hdl.handle.net/10138/337077
RT Journal T1 <Title>A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy</Title> UL https://suche.suub.uni-bremen.de/peid=base-ftunivhelsihelda:oai:helda.helsinki.fi:10138_337077&Exemplar=1&LAN=DE A1 EuroEPINOMICS-RES Consortium A1 GRIN Consortium A1 Helbig, Ingo A1 Lopez-Hernandez, Tania A1 Shor, Oded A1 Lehesjoki, Anna-Elina A1 Linnankivi, Tarja A1 Palotie, Aarno PB Cell Press YR 2021 K1 DE-NOVO MUTATIONS K1 ILAE COMMISSION K1 POSITION PAPER K1 ADAPTER AP-2 K1 PROTEIN K1 CLASSIFICATION K1 RECRUITMENT K1 BINDING K1 Biomedicine K1 Neurosciences K1 Neurology and psychiatry JF 10.1016/j.ajhg.2019.04.001 LK http://hdl.handle.net/10138/337077 DO http://hdl.handle.net/10138/337077 SF ELIB - SuUB Bremen
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