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Biallelic AOPEP Loss-of-Function Variants Cause Progressive..:

Zech, M ; Kumar, KR ; Reining, S...
https://discovery.ucl.ac.uk/id/eprint/10135960/1/Kurian_mds.28804.pdf. , 2021

Link: https://discovery.ucl.ac.uk/id/eprint/10135960/1/Kuria..

RT Journal
T1 <Title>Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement</Title>

UL https://suche.suub.uni-bremen.de/peid=base-ftucl:oai:eprints.ucl.ac.uk.OAI2:10135960&Exemplar=1&LAN=DE
				
A1 Zech, M
A1 Kumar, KR
A1 Reining, S
A1 Reunert, J
A1 Tchan, M
A1 Riley, LG
A1 Drew, AP
A1 Adam, RJ
A1 Berutti, R
A1 Biskup, S
A1 Derive, N
A1 Bakhtiari, S
A1 Jin, SC
A1 Kruer, MC
A1 Bardakjian, T
A1 Gonzalez-Alegre, P
A1 Keller Sarmiento, IJ
A1 Mencacci, NE
A1 Lubbe, SJ
A1 Kurian, MA
A1 Clot, F
A1 Méneret, A
A1 de Sainte Agathe, J-M
A1 Fung, VSC
A1 Vidailhet, M
A1 Baumann, M
A1 Marquardt, T
A1 Winkelmann, J
A1 Boesch, S
YR 2021
K1 AOPEP
K1 genomic analysis
K1 loss-of-function variants
K1 monogenic dystonia
K1 rare disease
JF https://discovery.ucl.ac.uk/id/eprint/10135960/1/Kurian_mds.28804.pdf
LK http://dx.doi.org/https://discovery.ucl.ac.uk/id/eprint/10135960/1/Kurian_mds.28804.pdf
DO https://discovery.ucl.ac.uk/id/eprint/10135960/1/Kurian_mds.28804.pdf
SF ELIB - SuUB Bremen

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