Clinical variants in Caenorhabditis elegans expressing human STXBP1 reveal a novel class of pathogenic variants and classify variants of uncertain significance

Clinical variants in Caenorhabditis elegans expressing human STXBP1 reveal a novel class of pathogenic variants and classify variants of uncertain significance

Purpose: Modeling disease variants in animals is useful for drug discovery, understanding disease pathology, and classifying variants of uncertain significance (VUS) as pathogenic or benign. Methods: Using Clustered Regularly Interspaced Short Palindromic Repeats, we performed a Whole-gene Humanized...

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Bibliographic Details
Main Authors: Christopher E. Hopkins, Kathryn McCormick, Trisha Brock, Matthew Wood, Sarah Ruggiero, Kolt Mcbride, Christine Kim, Jennifer A. Lawson, Ingo Helbig, Matthew N. Bainbridge
Format: Article
Language:English
Published: Elsevier 2023-01-01
Series:Genetics in Medicine Open
Subjects:
Clinical variant
CRISPR
STXBP1
unc-18
Variant of uncertain significance
Online Access:http://www.sciencedirect.com/science/article/pii/S2949774423008324

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http://www.sciencedirect.com/science/article/pii/S2949774423008324

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