Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia
SCNM1 基因突变会导致口面指综合征，这是由于影响初级纤毛的微小内含子剪接缺陷所致
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2022.08.009
Asier Iturrate, Ana Rivera-Barahona, Carmen-Lisset Flores, Ghada A Otaify, Rasha Elhossini, Marina L Perez-Sanz, Julián Nevado, Jair Tenorio-Castano, Juan Carlos Triviño, Francesc R Garcia-Gonzalo, Francesca Piceci-Sparascio, Alessandro De Luca, Leopoldo Martínez, Tugba Kalaycı, Pablo Lapunzina, Umu
