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Moderate reduction of Norrin signaling activity associated with the causative missense mutations identified in patients with familial exudative vitreoretinopathy.
Hum Genet. 2008 Jan;122(6):615-23. doi: 10.1007/s00439-007-0438-8. Epub 2007 Oct 23.
Hum Genet. 2008.
PMID: 17955262
TSPAN12 regulates retinal vascular development by promoting Norrin- but not Wnt-induced FZD4/beta-catenin signaling.
Junge HJ, Yang S, Burton JB, Paes K, Shu X, French DM, Costa M, Rice DS, Ye W.
Junge HJ, et al.
Cell. 2009 Oct 16;139(2):299-311. doi: 10.1016/j.cell.2009.07.048.
Cell. 2009.
PMID: 19837033
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