Title: Clinical variants in <i>Caenorhabditis elegans</i> expressing human STXBP1 reveal a novel class of pathogenic variants and classify variants of uncertain significance.
Authors: Hopkins CE, McCormick K, Brock T, Wood M, Ruggiero S, McBride K, Kim C, Lawson JA, Helbig I, Bainbridge MN
Journal: Genet Med Open
Published: 2023
Volume: 1