TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis.
Morlino S, Carbone A, Ritelli M, Fusco C, Giambra V, Nardella G, Notarangelo A, Panelli P, Mazzoccoli G, Zoppi N, Grammatico P, Wade EM, Colombi M, Castori M, Micale L.
Morlino S, et al. Among authors: colombi m.
Hum Mutat. 2019 Oct;40(10):1886-1898. doi: 10.1002/humu.23834. Epub 2019 Jun 27.
Hum Mutat. 2019.
PMID: 31250519