Zebrafish modeling for the clinic: Rapid in vivo functional testing of patient variants for clinical applications.

We use the zebrafish (Danio rerio) as an in vivo model to measure the functional effects of patient-derived genetic variation.  In this way, human genetic variants identified in the clinic are quantitatively and qualitatively connected to model animal phenotypes.  As a proof of concept study, we used precision gene editing and transient knockdown approaches targeting stxbp1a – the …

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