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Identification of the first promoter‐specific gain‐of‐funct..:
Ushijima, Kikumi
;
Ogawa, Yuya
;
Terao, Miho
...
American Journal of Medical Genetics Part A. 185 (2021) 4 - p. 1067-1075 , 2021
Link:
https://doi.org/10.1002/ajmg.a.62063
RT Journal T1 <Title>Identification of the first promoter‐specific gain‐of‐function SOX9 missense variant (p.E50K) in a patient with 46,XX ovotesticular disorder of sex development</Title> UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_ajmg.a.62063&Exemplar=1&LAN=DE A1 Ushijima, Kikumi A1 Ogawa, Yuya A1 Terao, Miho A1 Asakura, Yumi A1 Muroya, Koji A1 Hayashi, Mie A1 Ishii, Tomohiro A1 Hasegawa, Tomonobu A1 Sekido, Ryohei A1 Fukami, Maki A1 Takada, Shuji A1 Narumi, Satoshi PB Wiley YR 2021 SN 1552-4825 SN 1552-4833 JF American Journal of Medical Genetics Part A VO 185 IS 4 SP 1067 OP 1075 LK http://dx.doi.org/https://doi.org/10.1002/ajmg.a.62063 DO https://doi.org/10.1002/ajmg.a.62063 SF ELIB - SuUB Bremen
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