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Modeling Bainbridge-Ropers Syndrome in Xenopus laevis Embryos

The Additional sex combs-like (ASXL1-3) genes are linked to human neurodevelopmental disorders. The de novo truncating variants in ASXL1-3 proteins serve as the genetic basis for severe neurodevelopmental diseases such as Bohring-Opitz, Shashi-Pena, and Bainbridge-Ropers syndromes, respectively. The...

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Detalles Bibliográficos
Autores principales: Lichtig, Hava, Artamonov, Artyom, Polevoy, Hanna, Reid, Christine D., Bielas, Stephanie L., Frank, Dale
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7040374/
https://www.ncbi.nlm.nih.gov/pubmed/32132929
http://dx.doi.org/10.3389/fphys.2020.00075