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TSC2 pathogenic variants are predictive of severe clinical ..:
Ogórek, Barbara
;
Hamieh, Lana
;
Hulshof, Hanna M.
...
Genetics in Medicine. 22 (2020) 9 - p. 1489-1497 , 2020
Link:
https://doi.org/10.1038/s41436-020-0823-4
RT Journal T1
TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study
UL https://suche.suub.uni-bremen.de/peid=cr-10.1038_s41436-020-0823-4&Exemplar=1&LAN=DE A1 Ogórek, Barbara A1 Hamieh, Lana A1 Hulshof, Hanna M. A1 Lasseter, Kathryn A1 Klonowska, Katarzyna A1 Kuijf, Hugo A1 Moavero, Romina A1 Hertzberg, Christoph A1 Weschke, Bernhard A1 Riney, Kate A1 Feucht, Martha A1 Scholl, Theresa A1 Krsek, Pavel A1 Nabbout, Rima A1 Jansen, Anna C. A1 Benova, Barbora A1 Aronica, Eleonora A1 Lagae, Lieven A1 Curatolo, Paolo A1 Borkowska, Julita A1 Sadowski, Krzysztof A1 Domańska-Pakieła, Dorota A1 Janson, Stef A1 Kozlowski, Piotr A1 Urbanska, Malgorzata A1 Jaworski, Jacek A1 Jozwiak, Sergiusz A1 Jansen, Floor E. A1 Kotulska, Katarzyna A1 Kwiatkowski, David J. PB Elsevier BV YR 2020 SN 1098-3600 JF Genetics in Medicine VO 22 IS 9 SP 1489 OP 1497 LK http://dx.doi.org/https://doi.org/10.1038/s41436-020-0823-4 DO https://doi.org/10.1038/s41436-020-0823-4 SF ELIB - SuUB Bremen
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