CRISPR Single Base Editing, Neuronal Disease Modelling and Functional Genomics for Genetic Variant Analysis: Pipeline Validation Using Kleefstra Syndrome EHMT1 Haploinsufficiency
Stem Cell Research & Therapy（2022）
Key words
Rare genetic diseases,Translational genetics,Kleefstra syndrome,CRISPR SNV editing,Variant of uncertain significance,Inducible pluripotent stem cells,Functional genomics
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