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1 Ergebnisse
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Homozygous duplication identified by whole genome sequencin..:
Merico, Daniele
;
Pasternak, Yehonatan
;
Zarrei, Mehdi
...
npj Genomic Medicine. 6 (2021) 1 - p. , 2021
Link:
https://doi.org/10.1038/s41525-021-00263-z
RT Journal T1
Homozygous duplication identified by whole genome sequencing causes LRBA deficiency
UL https://suche.suub.uni-bremen.de/peid=cr-10.1038_s41525-021-00263-z&Exemplar=1&LAN=DE A1 Merico, Daniele A1 Pasternak, Yehonatan A1 Zarrei, Mehdi A1 Higginbotham, Edward J. A1 Thiruvahindrapuram, Bhooma A1 Scott, Ori A1 Willett-Pachul, Jessica A1 Grunebaum, Eyal A1 Upton, Julia A1 Atkinson, Adelle A1 Kim, Vy H. D. A1 Aliyev, Elbay A1 Fakhro, Khalid A1 Scherer, Stephen W. A1 Roifman, Chaim M. PB Springer Science and Business Media LLC YR 2021 SN 2056-7944 JF npj Genomic Medicine VO 6 IS 1 LK http://dx.doi.org/https://doi.org/10.1038/s41525-021-00263-z DO https://doi.org/10.1038/s41525-021-00263-z SF ELIB - SuUB Bremen
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