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Novel THAP1 missense variant with incomplete penetrance in ..:
Keller Sarmiento, Ignacio J.
;
Fraint, Avram
;
Kinsley, Lisa
...
Parkinsonism & Related Disorders. 105 (2022) - p. 7-8 , 2022
Link:
https://doi.org/10.1016/j.parkreldis.2022.10.022
RT Journal T1
Novel THAP1 missense variant with incomplete penetrance in a case of generalized young onset dystonia showing good response to deep brain stimulation
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.parkreldis.2022.10.022&Exemplar=1&LAN=DE A1 Keller Sarmiento, Ignacio J. A1 Fraint, Avram A1 Kinsley, Lisa A1 Akhtar, Rizwan S. A1 Silani, Vincenzo A1 Lubbe, Steven J. A1 Krainc, Dimitri A1 Mencacci, Niccolò E. PB Elsevier BV YR 2022 SN 1353-8020 JF Parkinsonism & Related Disorders VO 105 SP 7 OP 8 LK http://dx.doi.org/https://doi.org/10.1016/j.parkreldis.2022.10.022 DO https://doi.org/10.1016/j.parkreldis.2022.10.022 SF ELIB - SuUB Bremen
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