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1 Ergebnisse
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Biallelic loss‐of‐function variants inTBC1D2Bcause a neurod..:
Harms, Frederike L.
;
Parthasarathy, Padmini
;
Zorndt, Dennis
...
Human Mutation. 41 (2020) 9 - p. 1645-1661 , 2020
Link:
https://doi.org/10.1002/humu.24071
RT Journal T1
Biallelic loss‐of‐function variants inTBC1D2Bcause a neurodevelopmental disorder with seizures and gingival overgrowth
UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_humu.24071&Exemplar=1&LAN=DE A1 Harms, Frederike L. A1 Parthasarathy, Padmini A1 Zorndt, Dennis A1 Alawi, Malik A1 Fuchs, Sigrid A1 Halliday, Benjamin J. A1 McKeown, Colina A1 Sampaio, Hugo A1 Radhakrishnan, Natasha A1 Radhakrishnan, Suresh K. A1 Gorce, Magali A1 Navet, Benjamin A1 Ziegler, Alban A1 Sachdev, Rani A1 Robertson, Stephen P. A1 Nampoothiri, Sheela A1 Kutsche, Kerstin PB Hindawi Limited YR 2020 SN 1059-7794 SN 1098-1004 JF Human Mutation VO 41 IS 9 SP 1645 OP 1661 LK http://dx.doi.org/https://doi.org/10.1002/humu.24071 DO https://doi.org/10.1002/humu.24071 SF ELIB - SuUB Bremen
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