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De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder

American Journal of Human Genetics - United States
doi 10.1016/j.ajhg.2019.06.007
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Abstract

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Categories
Genetics
Date

August 1, 2019

Authors
Lot Snijders BlokTjitske KleefstraHanka VenselaarSaskia MaasHester Y. KroesAugusta M.A. LachmeijerKoen L.I. van GassenHelen V. FirthSusan TomkinsSimon BodekKatrin ÕunapMonica H. WojcikChristopher CunniffKatherine BergstromZoë PowisSha TangDeepali N. ShindeCatherine AuAlejandro D. IglesiasKosuke IzumiJacqueline LeonardAhmad Abou TayounSamuel W. BakerMarco TartagliaMarcello NicetaMaria Lisa DenticiNobuhiko OkamotoNoriko MiyakeNaomichi MatsumotoAntonio VitobelloLaurence FaivreChristophe PhilippeChristian GilissenLaurens WielRolph PfundtPelagia DeriziotisHan G. BrunnerSimon E. Fisher
Publisher

Elsevier BV

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