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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Bibliographic Details

Published in:	Computational and Structural Biotechnology Journal
Main Authors:	Young-In Chi, Salomão D. Jorge, Davin R. Jensen, Brian C. Smith, Brian F. Volkman, Angela J. Mathison, Gwen Lomberk, Michael T. Zimmermann, Raul Urrutia
Format:	Article
Language:	English
Published:	Elsevier 2023-01-01
Subjects:	EHMT1 GLP Epigenetic regulator Histone methyltransferase Gene variation Kleefstra syndrome
Online Access:	http://www.sciencedirect.com/science/article/pii/S2001037023003781