A multi-layered computational structural genomics approach enhances domain-specific interpretation of Kleefstra syndrome variants in EHMT1

This study investigates the functional significance of assorted variants of uncertain significance (VUS) in euchromatic histone lysine methyltransferase 1 (EHMT1), which is critical for early development and normal physiology. EHMT1 mutations cause Kleefstra syndrome and are linked to various human...

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Detalles Bibliográficos
Autores principales: Chi, Young-In, Jorge, Salomão D., Jensen, Davin R., Smith, Brian C., Volkman, Brian F., Mathison, Angela J., Lomberk, Gwen, Zimmermann, Michael T., Urrutia, Raul
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Research Network of Computational and Structural Biotechnology 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10632586/
https://www.ncbi.nlm.nih.gov/pubmed/37954151
http://dx.doi.org/10.1016/j.csbj.2023.10.022

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10632586/
https://www.ncbi.nlm.nih.gov/pubmed/37954151
http://dx.doi.org/10.1016/j.csbj.2023.10.022

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