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1 Ergebnisse
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A Novel Intronic Pathogenic Variant in STAR With a Dominant..:
Finn, Erin
;
Kripps, Kimberly
;
Chambers, Christina
...
Journal of Investigative Medicine High Impact Case Reports. 9 (2021) - p. 232470962110146 , 2021
Link:
https://doi.org/10.1177/23247096211014685
RT Journal T1 <Title>A Novel Intronic Pathogenic Variant in STAR With a Dominant Negative Mechanism Causes Attenuated Lipoid Congenital Adrenal Hyperplasia</Title> UL https://suche.suub.uni-bremen.de/peid=cr-10.1177_23247096211014685&Exemplar=1&LAN=DE A1 Finn, Erin A1 Kripps, Kimberly A1 Chambers, Christina A1 Rapp, Michele A1 Meeks, Naomi J. L. A1 Xu, Fang A1 Chen, Wuyan A1 Larson, Austin A. A1 Nokoff, Natalie J. PB SAGE Publications YR 2021 SN 2324-7096 SN 2324-7096 JF Journal of Investigative Medicine High Impact Case Reports VO 9 SP 232470962110146 LK http://dx.doi.org/https://doi.org/10.1177/23247096211014685 DO https://doi.org/10.1177/23247096211014685 SF ELIB - SuUB Bremen
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