Clinical variants in Caenorhabditis elegans expressing human STXBP1 reveal a novel class of pathogenic variants and classify variants of uncertain significance
| Autor: | Hopkins, Christopher E., McCormick, Kathryn, Brock, Trisha, Wood, Matthew, Ruggiero, Sarah, Mcbride, Kolt, Kim, Christine, Lawson, Jennifer A., Helbig, Ingo, Bainbridge, Matthew N. |
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| Zdroj: | In Genetics in Medicine Open 2023 1(1) |
| Databáze: | ScienceDirect |
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