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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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Detalles Bibliográficos
Autores principales:	Widowati, Esti Wahyu, Ernst, Sabrina, Hausmann, Ralf, Müller-Newen, Gerhard, Becker, Walter
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Company of Biologists Ltd 2018
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5936063/ https://www.ncbi.nlm.nih.gov/pubmed/29700199 http://dx.doi.org/10.1242/bio.032862

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