Article

A Multi-Layered Computational Structural Genomics Approach Enhances Domain-Specific Interpretation of Kleefstra Syndrome Variants in EHMT1

2023-09-07

Abstract excerpt

<h4>ABSTRACT</h4> 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 cancers. However, accurate functional interpretation of these variants are yet to be made, limitin...

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Literature Corpus work: f309cd44-feb5-5b41-ab9c-b30250a3ec13
DOI: 10.1101/2023.09.06.556558

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