Clinical variants in Caenorhabditis elegans expressing human STXBP1 reveal a novel class of pathogenic variants and classify variants of uncertain significance
Hopkins, Christopher E., McCormick, Kathryn, Brock, Trisha, Wood, Matthew, Ruggiero, Sarah, Mcbride, Kolt, Kim, Christine, Lawson, Jennifer A., Helbig, Ingo, Bainbridge, Matthew N.
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
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A Gene Replacement Humanization Platform for Rapid Functional Testing of Clinical Variants in Epilepsy-associated STXBP1
Mccormick, Kathryn, Brock, Trisha, Wood, Matthew, Guo, Lan, Mcbride, Kolt, Kim, Christine, Resch, Lauren, Pop, Stelian, Chandler, Bradford, Kendrick, Preston, Lawson, Jennifer A, Saunders, Adam, Mckeown, Sarah, Helbig, Ingo, Bainbridge, Matthew N, Hopkins, Christopher E
Published in bioRxiv (13.08.2021)
Published in bioRxiv (13.08.2021)
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