SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis

Arthur Stefanski, Eduardo Pérez-Palma, Tobias Brünger, Ludovica Montanucci, Cornelius Gati, Chiara Klöckner, Katrine M. Johannesen, Kimberly Goodspeed, Marie MacNee, Alexander T. Deng, Ángel Aledo-Serrano, Artem Borovikov, Maina Kava, Arjan M. Bouman, M. J. Hajianpour, Deb K. Pal, Marc Engelen, Eveline E.O. Hagebeuk, Marwan Shinawi, Alexis R. HeidlebaughKathryn Oetjens, Trevor L. Hoffman, Pasquale Striano, Amanda S. Freed, Line Futtrup, Thomas Balslev, Anna Abulí, Leslie Danvoye, Damien Lederer, Tugce Balci, Maryam Nabavi Nouri, Elizabeth Butler, Sarah Drewes, Kalene Van Engelen, Katherine B. Howell, Jean Khoury, Patrick May, Marena Trinidad, Steven Froelich, Johannes R. Lemke, Jacob Tiller, Amber N. Freed, Jing Qiong Kang, Arthur Wuster, Rikke S. Møller, Dennis Lal

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