Functional characterization of DYRK1A missense variants associated with a syndromic form of intellectual deficiency and autism

Haploinsufficiency of DYRK1A is a cause of a neurodevelopmental syndrome termed mental retardation autosomal dominant 7 (MRD7). Several truncation mutations, microdeletions and missense variants have been identified and result in a recognizable phenotypic profile, including microcephaly, intellectua...

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Autors principals:	Esti Wahyu Widowati, Sabrina Ernst, Ralf Hausmann, Gerhard Müller-Newen, Walter Becker
Format:	Artigo
Idioma:	Inglês
Publicat:	The Company of Biologists 2018-04-01
Col·lecció:	Biology Open
Matèries:	DYRK1A Haploinsuffiency Intellectual disability Missense mutation MRD7
Accés en línia:	http://bio.biologists.org/content/7/4/bio032862
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