Missense variants causing Wiedemann-Steiner syndrome preferentially occur in the KMT2A-CXXC domain and are accurately classified using AlphaFold2

Wiedemann-Steiner syndrome (WDSTS) is a neurodevelopmental disorder caused by de novo variants in KMT2A, which encodes a multi-domain histone methyltransferase. To gain insight into the currently unknown pathogenesis of WDSTS, we examined the spatial distribution of likely WDSTS-causing variants acr...

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Detalles Bibliográficos
Autores principales: Reynisdottir, Tinna, Anderson, Kimberley Jade, Boukas, Leandros, Bjornsson, Hans Tomas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9249231/
https://www.ncbi.nlm.nih.gov/pubmed/35727845
http://dx.doi.org/10.1371/journal.pgen.1010278

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