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Compound heterozygous variants in SHQ1 are associated with ..:
Sleiman, Sophie
;
Marshall, Aren E
;
Dong, Xiaomin
...
Human Molecular Genetics. 31 (2021) 4 - p. 614-624 , 2021
Link:
https://doi.org/10.1093/hmg/ddab247
RT Journal T1
Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia
UL https://suche.suub.uni-bremen.de/peid=cr-10.1093_hmg_ddab247&Exemplar=1&LAN=DE A1 Sleiman, Sophie A1 Marshall, Aren E A1 Dong, Xiaomin A1 Mhanni, Aziz A1 Alidou-D'Anjou, Ismaël A1 Frosk, Patrick A1 Marin, Samantha E A1 Stark, Zornitza A1 Del Bigio, Marc R A1 McBride, Arran A1 Sadedin, Simon A1 Gallacher, Lyndon A1 Christodoulou, John A1 Boycott, Kym M A1 Dragon, François A1 Kernohan, Kristin D A1 Care4Rare Canada Consortium PB Oxford University Press (OUP) YR 2021 SN 0964-6906 SN 1460-2083 JF Human Molecular Genetics VO 31 IS 4 SP 614 OP 624 LK http://dx.doi.org/https://doi.org/10.1093/hmg/ddab247 DO https://doi.org/10.1093/hmg/ddab247 SF ELIB - SuUB Bremen
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