Molecular mechanics and dynamic simulations of well-known Kabuki syndrome-associated KDM6A variants reveal putative mechanisms of dysfunction

BACKGROUND: Kabuki syndrome is a genetic disorder that affects several body systems and presents with variations in symptoms and severity. The syndrome is named for a common phenotype of faces resembling stage makeup used in a Japanese traditional theatrical art named kabuki. The most frequent cause...

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Detalles Bibliográficos
Autores principales: Chi, Young-In, Stodola, Timothy J., De Assuncao, Thiago M., Levrence, Elise N., Tripathi, Swarnendu, Dsouza, Nikita R., Mathison, Angela J., Basel, Donald G., Volkman, Brian F., Smith, Brian C., Lomberk, Gwen, Zimmermann, Michael T., Urrutia, Raul
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7866879/
https://www.ncbi.nlm.nih.gov/pubmed/33546721
http://dx.doi.org/10.1186/s13023-021-01692-w

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