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A Gene Replacement Humanization Platform for Rapid Functional Testing of Clinical Variants in Epilepsy-associated <i>STXBP1</i>

2021-08-13

Abstract excerpt

<h4>Purpose</h4> Functional evidence is a pillar of variant interpretation according to ACMG guidelines. Functional evidence can be obtained in a variety of models and assay systems, including patient-derived tissues and iPSCs, in vitro cellular assays, and in vivo assays. Here we evaluate the reliability and practicality of variant interpretation in the small animal model, C . elegans , through a series of exp...

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Literature Corpus work
694dff74-353e-5df3-a105-d00863d9c976
DOI
10.1101/2021.08.13.453827
Open publication

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