Clinical variants in Caenorhabditis elegans expressing human STXBP1 reveal a novel class of pathogenic variants and classify variants of uncertain significance.
Christopher E HopkinsKathryn McCormickTrisha BrockMatthew WoodSarah RuggieroKolt McbrideChristine KimJennifer A LawsonIngo HelbigMatthew N BainbridgePublished in: Genetics in medicine open (2023)
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