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Identical EP300 variant leading to Rubinstein–Taybi syndrom..:
Saettini, Francesco
;
Fazio, Grazia
;
Bonati, Maria Teresa
...
American Journal of Medical Genetics Part A. 188 (2022) 7 - p. 2129-2134 , 2022
Link:
https://doi.org/10.1002/ajmg.a.62719
RT Journal T1 <Title>Identical EP300 variant leading to Rubinstein–Taybi syndrome with different clinical and immunologic phenotype</Title> UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_ajmg.a.62719&Exemplar=1&LAN=DE A1 Saettini, Francesco A1 Fazio, Grazia A1 Bonati, Maria Teresa A1 Moratto, Daniele A1 Massa, Valentina A1 Di Fede, Elisabetta A1 Castiglioni, Silvia A1 Marchetti, Daniela A1 Chiarini, Marco A1 Sottini, Alessandra A1 Iascone, Maria A1 Cazzaniga, Giovanni A1 Imberti, Luisa A1 Biondi, Andrea A1 Gervasini, Cristina A1 Badolato, Raffaele PB Wiley YR 2022 SN 1552-4825 SN 1552-4833 JF American Journal of Medical Genetics Part A VO 188 IS 7 SP 2129 OP 2134 LK http://dx.doi.org/https://doi.org/10.1002/ajmg.a.62719 DO https://doi.org/10.1002/ajmg.a.62719 SF ELIB - SuUB Bremen
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