The infantile myofibromatosis NOTCH3 L1519P mutation leads to hyperactivated ligand-independent Notch signaling and increased PDGFRB expression.
Wu D, Wang S, Oliveira DV, Del Gaudio F, Vanlandewijck M, Lebouvier T, Betsholtz C, Zhao J, Jin S, Lendahl U, Karlstrom H
Dis Model Mech. 2021 Jan 28. pii: dmm.046300. doi: 10.1242/dmm.046300.
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