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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. (Link opens in a new window) PubMed (Link opens in a new window) Article

Plasmids from Article

ID Plasmid Purpose
193012pTol2CG NBT:NRGIIIa:polyATol2 transgenic construct that will express human Neuregulin1 Type IIIa in neurons
193013pTol2CG NBT:NRGIIIa_R551Q:polyATol2 transgenic construct that will express human Neuregulin1 Type IIIa R551Q patient variant in neurons

Antibodies from Article