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1 Ergebnisse
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P192: Heterozygous ACTB pathogenic variant causing Baraitse..:
Jeremy Hill
;
Kathleen Shields
;
David Rodriguez-Buritica
..
http://www.sciencedirect.com/science/article/pii/S2949774423002212. , 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=base-ftdoajarticles:oai:doaj.org_article:f51087cbbe7042c5a5d582c3dbd91452&Exemplar=1&LAN=DE A1 Jeremy Hill A1 Kathleen Shields A1 David Rodriguez-Buritica A1 Laura Farach A1 Paul Hillman PB Elsevier YR 2023 K1 Genetics K1 QH426-470 K1 Medicine K1 R JF http://www.sciencedirect.com/science/article/pii/S2949774423002212 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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