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Mutations in STAMBP, encoding a deubiquitinating enzyme, ca..:
FORGE Canada Consortium
;
McDonell, Laura M
;
Mirzaa, Ghayda M
...
Nature Genetics. 45 (2013) 5 - p. 556-562 , 2013
Link:
https://doi.org/10.1038/ng.2602
RT Journal T1
Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly–capillary malformation syndrome
UL https://suche.suub.uni-bremen.de/peid=cr-10.1038_ng.2602&Exemplar=1&LAN=DE A1 FORGE Canada Consortium A1 McDonell, Laura M A1 Mirzaa, Ghayda M A1 Alcantara, Diana A1 Schwartzentruber, Jeremy A1 Carter, Melissa T A1 Lee, Leo J A1 Clericuzio, Carol L A1 Graham Jr, John M A1 Morris-Rosendahl, Deborah J A1 Polster, Tilman A1 Acsadi, Gyula A1 Townshend, Sharron A1 Williams, Simon A1 Halbert, Anne A1 Isidor, Bertrand A1 David, Albert A1 Smyser, Christopher D A1 Paciorkowski, Alex R A1 Willing, Marcia A1 Woulfe, John A1 Das, Soma A1 Beaulieu, Chandree L A1 Marcadier, Janet A1 Geraghty, Michael T A1 Frey, Brendan J A1 Majewski, Jacek A1 Bulman, Dennis E A1 Dobyns, William B A1 O'Driscoll, Mark PB Springer Science and Business Media LLC YR 2013 SN 1061-4036 SN 1546-1718 JF Nature Genetics VO 45 IS 5 SP 556 OP 562 LK http://dx.doi.org/https://doi.org/10.1038/ng.2602 DO https://doi.org/10.1038/ng.2602 SF ELIB - SuUB Bremen
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