SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis
SLC6A1变异体的致病性、分子功能和表型:一项遗传和临床分析
期刊:Brain
影响因子:11.7
doi:10.1093/brain/awad292
Stefanski, Arthur; Pérez-Palma, Eduardo; Brünger, Tobias; Montanucci, Ludovica; Gati, Cornelius; Klöckner, Chiara; Johannesen, Katrine M; Goodspeed, Kimberly; Macnee, Marie; Deng, Alexander T; Aledo-Serrano, Ángel; Borovikov, Artem; Kava, Maina; Bouman, Arjan M; Hajianpour, M J; Pal, Deb K; Engelen, Marc; Hagebeuk, Eveline E O; Shinawi, Marwan; Heidlebaugh, Alexis R; Oetjens, Kathryn; Hoffman, Trevor L; Striano, Pasquale; Freed, Amanda S; Futtrup, Line; Balslev, Thomas; Abulí, Anna; Danvoye, Leslie; Lederer, Damien; Balci, Tugce; Nouri, Maryam Nabavi; Butler, Elizabeth; Drewes, Sarah; van Engelen, Kalene; Howell, Katherine B; Khoury, Jean; May, Patrick; Trinidad, Marena; Froelich, Steven; Lemke, Johannes R; Tiller, Jacob; Freed, Amber N; Kang, Jing-Qiong; Wuster, Arthur; Møller, Rikke S; Lal, Dennis