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Identification of a novel splice‐site WWOX variant with pat..:
Nishino, Megumi
;
Tanaka, Mai
;
Imagawa, Kazuo
...
American Journal of Medical Genetics Part A. 194 (2024) 7 - p. , 2024
Link:
https://doi.org/10.1002/ajmg.a.63575
RT Journal T1
Identification of a novel splice‐site WWOX variant with paternal uniparental isodisomy in a patient with infantile epileptic encephalopathy
UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_ajmg.a.63575&Exemplar=1&LAN=DE A1 Nishino, Megumi A1 Tanaka, Mai A1 Imagawa, Kazuo A1 Yaita, Katsuyuki A1 Enokizono, Takashi A1 Ohto, Tatsuyuki A1 Suzuki, Hisato A1 Yamada, Mamiko A1 Takenouchi, Toshiki A1 Kosaki, Kenjiro A1 Takada, Hidetoshi PB Wiley YR 2024 SN 1552-4825 SN 1552-4833 JF American Journal of Medical Genetics Part A VO 194 IS 7 LK http://dx.doi.org/https://doi.org/10.1002/ajmg.a.63575 DO https://doi.org/10.1002/ajmg.a.63575 SF ELIB - SuUB Bremen
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