Clinical variants in Caenorhabditis elegans expressing human STXBP1 reveal a novel class of pathogenic variants and classify variants of uncertain significance
Genetics in Medicine Open2023Vol. 1(1), pp. 100823–100823
Citations Over TimeTop 25% of 2023 papers
Christopher E. Hopkins, Kathryn McCormick, Trisha Brock, Matthew L.B. Wood, Sarah Ruggiero, Kolt Mcbride, Christine Kim, Jennifer A. Lawson, Ingo Helbig, Matthew N. Bainbridge
Abstract
We have demonstrated that automated analysis of a small animal system is an effective, scalable, and fast way to understand functional consequences of variants in STXBP1 and identify variant-specific intensities of aberrant activity suggesting a genotype-to-phenotype correlation is likely to occur in human clinical variations of STXBP1.
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