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1 Ergebnisse
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CIC de novo loss of function variants contribute to cerebra..:
Cao, Xuanye
;
Wolf, Annika
;
Kim, Sung-Eun
...
Journal of Medical Genetics. 58 (2020) 7 - p. 484-494 , 2020
Link:
https://doi.org/10.1136/jmedgenet-2020-106987
RT Journal T1
CIC de novo loss of function variants contribute to cerebral folate deficiency by downregulating FOLR1 expression
UL https://suche.suub.uni-bremen.de/peid=cr-10.1136_jmedgenet-2020-106987&Exemplar=1&LAN=DE A1 Cao, Xuanye A1 Wolf, Annika A1 Kim, Sung-Eun A1 Cabrera, Robert M. A1 Wlodarczyk, Bogdan J. A1 Zhu, Huiping A1 Parker, Margaret A1 Lin, Ying A1 Steele, John W. A1 Han, Xiao A1 Ramaekers, Vincent Th A1 Steinfeld, Robert A1 Finnell, Richard H. A1 Lei, Yunping PB BMJ YR 2020 SN 0022-2593 SN 1468-6244 JF Journal of Medical Genetics VO 58 IS 7 SP 484 OP 494 LK http://dx.doi.org/https://doi.org/10.1136/jmedgenet-2020-106987 DO https://doi.org/10.1136/jmedgenet-2020-106987 SF ELIB - SuUB Bremen
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