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The p.Thr395Met missense variant of NFIA found in a patient..:
Ogura, Yurie
;
Uehara, Tomoko
;
Ujibe, Kota
...
American Journal of Medical Genetics Part A. 188 (2022) 4 - p. 1184-1192 , 2022
Link:
https://doi.org/10.1002/ajmg.a.62638
RT Journal T1 <Title>The p.Thr395Met missense variant of NFIA found in a patient with intellectual disability is a defective variant</Title> UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_ajmg.a.62638&Exemplar=1&LAN=DE A1 Ogura, Yurie A1 Uehara, Tomoko A1 Ujibe, Kota A1 Yoshihashi, Hiroshi A1 Yamada, Mamiko A1 Suzuki, Hisato A1 Takenouchi, Toshiki A1 Kosaki, Kenjiro A1 Hirata, Hiromi PB Wiley YR 2022 SN 1552-4825 SN 1552-4833 JF American Journal of Medical Genetics Part A VO 188 IS 4 SP 1184 OP 1192 LK http://dx.doi.org/https://doi.org/10.1002/ajmg.a.62638 DO https://doi.org/10.1002/ajmg.a.62638 SF ELIB - SuUB Bremen
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