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A Noonan‐like pediatric patient with a de novo CBL pathogen..:
Chida‐Nagai, Ayako
;
Tonoki, Hidefumi
;
Makita, Naomasa
...
American Journal of Medical Genetics Part A. 191 (2023) 12 - p. 2837-2842 , 2023
Link:
https://doi.org/10.1002/ajmg.a.63370
RT Journal T1 <Title>A Noonan‐like pediatric patient with a de novo CBL pathogenic variant and an RNF213 polymorphism p.R4810K presenting with cardiopulmonary arrest due to left main coronary artery ostial atresia</Title> UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_ajmg.a.63370&Exemplar=1&LAN=DE A1 Chida‐Nagai, Ayako A1 Tonoki, Hidefumi A1 Makita, Naomasa A1 Ishiyama, Hiroyuki A1 Ihara, Masafumi A1 Maruo, Yuji A1 Tsujioka, Takao A1 Sasaki, Daisuke A1 Izumi, Gaku A1 Yamazawa, Hirokuni A1 Kato, Nobuyasu A1 Ito, Masaki A1 Fujimura, Miki A1 Sasaki, Osamu A1 Takeda, Atsuhito PB Wiley YR 2023 SN 1552-4825 SN 1552-4833 JF American Journal of Medical Genetics Part A VO 191 IS 12 SP 2837 OP 2842 LK http://dx.doi.org/https://doi.org/10.1002/ajmg.a.63370 DO https://doi.org/10.1002/ajmg.a.63370 SF ELIB - SuUB Bremen
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