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Bi-allelic Loss-of-Function CACNA1B Mutations in Progressiv..:

Gorman, KM ; Meyer, E ; Grozeva, D...
https://discovery.ucl.ac.uk/id/eprint/10074594/1/Cross_AJHG-D-18-00798R2-final.pdf. , 2019

Link: https://discovery.ucl.ac.uk/id/eprint/10074594/1/Cross..

RT Journal
T1 <Title>Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia</Title>

UL https://suche.suub.uni-bremen.de/peid=base-ftucl:oai:eprints.ucl.ac.uk.OAI2:10074594&Exemplar=1&LAN=DE
				
A1 Gorman, KM
A1 Meyer, E
A1 Grozeva, D
A1 Spinelli, E
A1 McTague, A
A1 Sanchis-Juan, A
A1 Carss, KJ
A1 Bryant, E
A1 Reich, A
A1 Schneider, AL
A1 Pressler, RM
A1 Simpson, MA
A1 Debelle, GD
A1 Wassmer, E
A1 Morton, J
A1 Sieciechowicz, D
A1 Jan-Kamsteeg, E
A1 Paciorkowski, AR
A1 King, MD
A1 Cross, JH
A1 Poduri, A
A1 Mefford, HC
A1 Scheffer, IE
A1 Haack, TB
A1 McCullagh, G
A1 Millichap, JJ
A1 Carvill, GL
A1 Clayton-Smith, J
A1 Maher, ER
A1 Raymond, FL
A1 Kurian, MA
PB CELL PRESS
YR 2019
K1 epilepsy
K1 developmental and epileptic encephalopathy (DEE)
K1 epilepsy-dyskinesiaCACNA1B
JF https://discovery.ucl.ac.uk/id/eprint/10074594/1/Cross_AJHG-D-18-00798R2-final.pdf
LK http://dx.doi.org/https://discovery.ucl.ac.uk/id/eprint/10074594/1/Cross_AJHG-D-18-00798R2-final.pdf
DO https://discovery.ucl.ac.uk/id/eprint/10074594/1/Cross_AJHG-D-18-00798R2-final.pdf
SF ELIB - SuUB Bremen

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