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The pathogenic variant c.258+533_459+403del in SBDS gene is..:
Foroni, Selena
;
Taha, Ibrahim
;
Bezzerri, Valentino
...
Gene Reports. 31 (2023) - p. 101775 , 2023
Link:
https://doi.org/10.1016/j.genrep.2023.101775
RT Journal T1
The pathogenic variant c.258+533_459+403del in SBDS gene is the commonest rare variant in Italy and shows a founder effect
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.genrep.2023.101775&Exemplar=1&LAN=DE A1 Foroni, Selena A1 Taha, Ibrahim A1 Bezzerri, Valentino A1 Pintani, Emily A1 Cipolli, Marco A1 Danesino, Cesare A1 Mazza, Tommaso A1 Minelli, Antonella PB Elsevier BV YR 2023 SN 2452-0144 JF Gene Reports VO 31 SP 101775 LK http://dx.doi.org/https://doi.org/10.1016/j.genrep.2023.101775 DO https://doi.org/10.1016/j.genrep.2023.101775 SF ELIB - SuUB Bremen
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