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De novo variants disturbing the transactivation capacity of POU3F3 cause a characteristic neurodevelopmental disorder
De novo variants disturbing the transactivation capacity of POU3F3 cause a characteristic neurodevelopmental disorder
2019
Lot Snijders Blok
Tjitske Kleefstra
Hanka Venselaar
Saskia M. Maas
Hester Y. Kroes
Augusta M. A. Lachmeijer
K.L.I. van Gassen
Helen V. Firth
Susan Tomkins
S. Bodek
Ddd Study
Katrin Õunap
Monica H. Wojcik
Christopher Cunniff
Katie Bergstrom
Zöe Powis
Sha Tang
Deepali N. Shinde
Alejandro Iglesias
Kosuke Izumi
Jacqueline Leonard
A. A. Tayyoun
Samuel W. Baker
Marco Tartaglia
Marcello Niceta
Maria Lisa Dentici
Nobuhiko Okamoto
Noriko Miyake
Naomichi Matsumoto
Antonio Vitobello
Laurence Faivre
Christophe Philippe
Christian Gilissen
L. van de Wiel
Rolph Pfundt
Pelagia Derizioti
Han G. Brunner
Simon E. Fisher
Keywords:
Genetics
Neurodevelopmental disorder
Biology
Transactivation
Correction
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