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1 Ergebnisse
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De novo missense variants in ZBTB47 are associated with dev..:
Ward, Scott K.
;
Wadley, Alexandrea
;
Tsai, Chun‐hui (Anne)
...
American Journal of Medical Genetics Part A. 194 (2023) 1 - p. 17-30 , 2023
Link:
https://doi.org/10.1002/ajmg.a.63399
RT Journal T1
De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities
UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_ajmg.a.63399&Exemplar=1&LAN=DE A1 Ward, Scott K. A1 Wadley, Alexandrea A1 Tsai, Chun‐hui (Anne) A1 Benke, Paul J. A1 Emrick, Lisa A1 Fisher, Kristen A1 Houck, Kimberly M. A1 Dai, Hongzheng A1 Guillen Sacoto, Maria J. A1 Craigen, William A1 Glaser, Kimberly A1 Murdock, David R. A1 Rohena, Luis A1 Diderich, Karin E. M. A1 Bruggenwirth, Hennie T. A1 Lee, Brendan A1 Bacino, Carlos A1 Burrage, Lindsay C. A1 Rosenfeld, Jill A. A1 Undiagnosed Diseases Network PB Wiley YR 2023 SN 1552-4825 SN 1552-4833 JF American Journal of Medical Genetics Part A VO 194 IS 1 SP 17 OP 30 LK http://dx.doi.org/https://doi.org/10.1002/ajmg.a.63399 DO https://doi.org/10.1002/ajmg.a.63399 SF ELIB - SuUB Bremen
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