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1 Ergebnisse
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P192: Heterozygous ACTB pathogenic variant causing Baraitse..:
Hill, Jeremy
;
Shields, Kathleen
;
Rodriguez-Buritica, David
..
Genetics in Medicine Open. 1 (2023) 1 - p. 100221 , 2023
Link:
https://doi.org/10.1016/j.gimo.2023.100221
RT Journal T1
P192: Heterozygous ACTB pathogenic variant causing Baraitser-Winter syndrome presenting with tracheal ring, intestinal atresia, and neonatal diabetes
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.gimo.2023.100221&Exemplar=1&LAN=DE A1 Hill, Jeremy A1 Shields, Kathleen A1 Rodriguez-Buritica, David A1 Farach, Laura A1 Hillman, Paul PB Elsevier BV YR 2023 SN 2949-7744 JF Genetics in Medicine Open VO 1 IS 1 SP 100221 LK http://dx.doi.org/https://doi.org/10.1016/j.gimo.2023.100221 DO https://doi.org/10.1016/j.gimo.2023.100221 SF ELIB - SuUB Bremen
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