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Loss-of-function and missense variants in NSD2 cause decrea..:
Zanoni, Paolo
;
Steindl, Katharina
;
Sengupta, Deepanwita
...
Genetics in Medicine. 23 (2021) 8 - p. 1474-1483 , 2021
Link:
https://doi.org/10.1038/s41436-021-01158-1
RT Journal T1
Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype
UL https://suche.suub.uni-bremen.de/peid=cr-10.1038_s41436-021-01158-1&Exemplar=1&LAN=DE A1 Zanoni, Paolo A1 Steindl, Katharina A1 Sengupta, Deepanwita A1 Joset, Pascal A1 Bahr, Angela A1 Sticht, Heinrich A1 Lang-Muritano, Mariarosaria A1 van Ravenswaaij-Arts, Conny M.A. A1 Shinawi, Marwan A1 Andrews, Marisa A1 Attie-Bitach, Tania A1 Maystadt, Isabelle A1 Belnap, Newell A1 Benoit, Valerie A1 Delplancq, Geoffroy A1 de Vries, Bert B.A. A1 Grotto, Sarah A1 Lacombe, Didier A1 Larson, Austin A1 Mourmans, Jeroen A1 Õunap, Katrin A1 Petrilli, Giulia A1 Pfundt, Rolph A1 Ramsey, Keri A1 Blok, Lot Snijders A1 Tsatsaris, Vassilis A1 Vitobello, Antonio A1 Faivre, Laurence A1 Wheeler, Patricia G. A1 Wevers, Marijke R. PB Elsevier BV YR 2021 SN 1098-3600 JF Genetics in Medicine VO 23 IS 8 SP 1474 OP 1483 LK http://dx.doi.org/https://doi.org/10.1038/s41436-021-01158-1 DO https://doi.org/10.1038/s41436-021-01158-1 SF ELIB - SuUB Bremen
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