Partial loss-of-function variant in neuregulin 1 identified in family with heritable peripheral neuropathy.
Lysko DE, Meireles AM, Folland C, McNamara E, Laing NG, Lamont PJ, Ravenscroft G, Talbot WS
Hum Mutat. 2022 Sep;43(9):1216-1223. doi: 10.1002/humu.24393. Epub 2022 May 17.
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Plasmids from Article
ID | Plasmid | Purpose |
---|---|---|
193012 | pTol2CG NBT:NRGIIIa:polyA | Tol2 transgenic construct that will express human Neuregulin1 Type IIIa in neurons |
193013 | pTol2CG NBT:NRGIIIa_R551Q:polyA | Tol2 transgenic construct that will express human Neuregulin1 Type IIIa R551Q patient variant in neurons |