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A novel RYR1 variant in an infant with a unique fetal prese..:
Baker, Elizabeth K.
;
Al Gharaibeh, Faris N.
;
Bove, Kevin
...
American Journal of Medical Genetics Part A. 191 (2023) 6 - p. 1646-1651 , 2023
Link:
https://doi.org/10.1002/ajmg.a.63188
RT Journal T1 <Title>A novel RYR1 variant in an infant with a unique fetal presentation of central core disease</Title> UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_ajmg.a.63188&Exemplar=1&LAN=DE A1 Baker, Elizabeth K. A1 Al Gharaibeh, Faris N. A1 Bove, Kevin A1 Calvo‐Garcia, Maria A. A1 Shillington, Amelle A1 VandenHeuvel, Katherine A1 Cortezzo, DonnaMaria E. PB Wiley YR 2023 SN 1552-4825 SN 1552-4833 JF American Journal of Medical Genetics Part A VO 191 IS 6 SP 1646 OP 1651 LK http://dx.doi.org/https://doi.org/10.1002/ajmg.a.63188 DO https://doi.org/10.1002/ajmg.a.63188 SF ELIB - SuUB Bremen
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