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Patient with a heterozygous pathogenic variant in CSNK2A1 g..:
Blanc, Albin
;
Bonnet, Céline
;
Wandzel, Marion
...
American Journal of Medical Genetics Part A. , 2024
Link:
https://doi.org/10.1002/ajmg.a.63642
RT Journal T1
Patient with a heterozygous pathogenic variant in CSNK2A1 gene: A new case to update the Okur–Chung neurodevelopmental syndrome
UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_ajmg.a.63642&Exemplar=1&LAN=DE A1 Blanc, Albin A1 Bonnet, Céline A1 Wandzel, Marion A1 Roth, Virginie A1 Duffourd, Yannis A1 Safraou, Hanna A1 Leheup, Bruno A1 Muller, Florence A1 D Colne, Julie A1 Feillet, François A1 Schmitt, Emmanuelle A1 Castro, Matheus A1 Savatt, Jullian A1 Burcheri, Adriano A1 Nemos, Christophe A1 Philippe, Christophe A1 Lambert, Laëtitia PB Wiley YR 2024 SN 1552-4825 SN 1552-4833 JF American Journal of Medical Genetics Part A LK http://dx.doi.org/https://doi.org/10.1002/ajmg.a.63642 DO https://doi.org/10.1002/ajmg.a.63642 SF ELIB - SuUB Bremen
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