De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder.
Mattioli F, Hayot G, Drouot N, Isidor B, Courraud J, Hinckelmann MV, Mau-Them FT, Sellier C, Goldman A, Telegrafi A, Boughton A, Gamble C, Moutton S, Quartier A, Jean N, Van Ness P, Grotto S, Nambot S, Douglas G, Si YC, Chelly J, Shad Z, Kaplan E, Dineen R, Golzio C, Charlet-Berguerand N, Mandel JL, Piton A
Am J Hum Genet. 2020 Apr 2;106(4):438-452. doi: 10.1016/j.ajhg.2020.02.013. Epub 2020 Mar 19.
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Plasmids from Article
| ID | Plasmid | Purpose |
|---|---|---|
| 224354 | peGFP NOVA2 op | Express GFP-tagged human NOVA2 (codon optimized) |