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A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Medi..:

Helbig, I ; Lopez-Hernandez, T ; Shor, O...
https://discovery.ucl.ac.uk/id/eprint/10076749/1/Sisodiya_AJHG-D-19-00045_R3_upload_proof_edited.pdf. , 2019

Link: https://discovery.ucl.ac.uk/id/eprint/10076749/1/Sisod..

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-ftucl:oai:eprints.ucl.ac.uk.OAI2:10076749&Exemplar=1&LAN=DE
				
A1 Helbig, I
A1 Lopez-Hernandez, T
A1 Shor, O
A1 Galer, P
A1 Ganesan, S
A1 Pendziwiat, M
A1 Rademacher, A
A1 Ellis, CA
A1 Hümpfer, N
A1 Schwarz, N
A1 Seiffert, S
A1 Peeden, J
A1 Shen, J
A1 Štěrbová, K
A1 Hammer, TB
A1 Møller, RS
A1 Shinde, DN
A1 Tang, S
A1 Smith, L
A1 Poduri, A
A1 Krause, R
A1 Benninger, F
A1 Helbig, KL
A1 Haucke, V
A1 Weber, YG
A1 EuroEPINOMICS-RES Consortium
A1 GRIN Consortium
YR 2019
K1 Human Phenotype Ontology
K1 clathrin-mediated endocytosis
K1 computational phenotypes
K1 developmental and epileptic encephalopathy
K1 neurodevelopmental disorders
K1 synaptic transmission
JF https://discovery.ucl.ac.uk/id/eprint/10076749/1/Sisodiya_AJHG-D-19-00045_R3_upload_proof_edited.pdf
LK http://dx.doi.org/https://discovery.ucl.ac.uk/id/eprint/10076749/1/Sisodiya_AJHG-D-19-00045_R3_upload_proof_edited.pdf
DO https://discovery.ucl.ac.uk/id/eprint/10076749/1/Sisodiya_AJHG-D-19-00045_R3_upload_proof_edited.pdf
SF ELIB - SuUB Bremen

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