SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect
SLC12A2基因变异会导致神经发育障碍或耳蜗前庭功能缺陷。
期刊:Brain
影响因子:11.7
doi:10.1093/brain/awaa176
McNeill, Alisdair; Iovino, Emanuela; Mansard, Luke; Vache, Christel; Baux, David; Bedoukian, Emma; Cox, Helen; Dean, John; Goudie, David; Kumar, Ajith; Newbury-Ecob, Ruth; Fallerini, Chiara; Renieri, Alessandra; Lopergolo, Diego; Mari, Francesca; Blanchet, Catherine; Willems, Marjolaine; Roux, Anne-Francoise; Pippucci, Tommaso; Delpire, Eric