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De novo SMARCA2 variants clustered outside the helicase dom..:
Cappuccio, Gerarda
;
Sayou, Camille
;
Tanno, Pauline Le
...
Genetics in Medicine. 22 (2020) 11 - p. 1838-1850 , 2020
Link:
https://doi.org/10.1038/s41436-020-0898-y
RT Journal T1
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome
UL https://suche.suub.uni-bremen.de/peid=cr-10.1038_s41436-020-0898-y&Exemplar=1&LAN=DE A1 Cappuccio, Gerarda A1 Sayou, Camille A1 Tanno, Pauline Le A1 Tisserant, Emilie A1 Bruel, Ange-Line A1 Kennani, Sara El A1 Sá, Joaquim A1 Low, Karen J. A1 Dias, Cristina A1 Havlovicová, Markéta A1 Hančárová, Miroslava A1 Eichler, Evan E. A1 Devillard, Françoise A1 Moutton, Sébastien A1 Van-Gils, Julien A1 Dubourg, Christèle A1 Odent, Sylvie A1 Gerard, Bénédicte A1 Piton, Amélie A1 Yamamoto, Toshiyuki A1 Okamoto, Nobuhiko A1 Firth, Helen A1 Metcalfe, Kay A1 Moh, Anna A1 Chapman, Kimberly A. A1 Aref-Eshghi, Erfan A1 Kerkhof, Jennifer A1 Torella, Annalaura A1 Nigro, Vincenzo A1 Perrin, Laurence PB Elsevier BV YR 2020 SN 1098-3600 JF Genetics in Medicine VO 22 IS 11 SP 1838 OP 1850 LK http://dx.doi.org/https://doi.org/10.1038/s41436-020-0898-y DO https://doi.org/10.1038/s41436-020-0898-y SF ELIB - SuUB Bremen
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