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H4C5 missense variant leads to a neurodevelopmental phenoty..:
Borja, Nicholas
;
Borjas‐Mendoza, Paulo
;
Bivona, Stephanie
...
American Journal of Medical Genetics Part A. 191 (2023) 7 - p. 1911-1916 , 2023
Link:
https://doi.org/10.1002/ajmg.a.63193
RT Journal T1
H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome
UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_ajmg.a.63193&Exemplar=1&LAN=DE A1 Borja, Nicholas A1 Borjas‐Mendoza, Paulo A1 Bivona, Stephanie A1 Peart, LéShon A1 Gonzalez, Joanna A1 Johnson, Brittney Keira A1 Guo, Shengru A1 Yusupov, Roman A1 Undiagnosed Diseases Network A1 Bademci, Guney A1 Tekin, Mustafa PB Wiley YR 2023 SN 1552-4825 SN 1552-4833 JF American Journal of Medical Genetics Part A VO 191 IS 7 SP 1911 OP 1916 LK http://dx.doi.org/https://doi.org/10.1002/ajmg.a.63193 DO https://doi.org/10.1002/ajmg.a.63193 SF ELIB - SuUB Bremen
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