NOTCH1 t(7;9)(NOTCH1:M1580_K2555) mutant, which results from fusion of NOTCH1 intron 24 with the promoter of T-cell receptor TCRB, lacks extracellular EGF repeats involved in ligand binding and is not able to bind JAG1 (Ellisen et al. 1991).
Smith, SD, Sklar, J, Ellisen, LW, Bird, J, West, DC, Soreng, AL, Reynolds, TC
Loss of function of NOTCH1 t(7;9)(NOTCH1:M1580 K2555) [plasma membrane]
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