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Novel noncanonical splice site variant causes mild CHD7‐rel..:
Boschann, Felix
;
Kosmehl, Sabine
;
Bloching, Marc
...
American Journal of Medical Genetics Part A. 191 (2023) 4 - p. 1128-1132 , 2023
Link:
https://doi.org/10.1002/ajmg.a.63122
RT Journal T1 <Title>Novel noncanonical splice site variant causes mild CHD7‐related disorder with variable intrafamilial expressivity</Title> UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_ajmg.a.63122&Exemplar=1&LAN=DE A1 Boschann, Felix A1 Kosmehl, Sabine A1 Bloching, Marc A1 Grünhagen, Johannes A1 Hildebrand, Gabriele A1 Horn, Denise A1 Lyutenski, Stefan PB Wiley YR 2023 SN 1552-4825 SN 1552-4833 JF American Journal of Medical Genetics Part A VO 191 IS 4 SP 1128 OP 1132 LK http://dx.doi.org/https://doi.org/10.1002/ajmg.a.63122 DO https://doi.org/10.1002/ajmg.a.63122 SF ELIB - SuUB Bremen
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