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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Veröffentlicht in:Orphanet journal of rare diseases Jg. 16; H. 1; S. 66 - 15
Hauptverfasser: Chi, Young-In, Stodola, Timothy J., De Assuncao, Thiago M., Leverence, 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
Format: Journal Article
Sprache:Englisch
Veröffentlicht: London BioMed Central 05.02.2021
BioMed Central Ltd
Springer Nature B.V
BMC
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ISSN:1750-1172, 1750-1172
Online-Zugang:Volltext
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