The ERBB2 c.1795C>T, p.Arg599Cys variant is associated with left ventricular outflow tract obstruction defects in humans.
ERBB2 c.1795C>T,p.Arg599Cys 变异与人类左心室流出道梗阻缺陷有关
期刊:HGG Advances
影响因子:3.6
doi:10.1016/j.xhgg.2025.100446
Ampuja Minna, Ericsson Sabina, Paatero Ilkka, Chowdhury Iftekhar, Villman Jenna, Broberg Martin, Ramste Amanda, Balboa Diego, Ojala Tiina, Chong Jessica X, Bamshad Michael J, Priest James R, Varjosalo Markku, Kivelä Riikka, Helle Emmi