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

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research · published 2023-12-01 · by Abulí A, Aledo-Serrano Á, Balci T, Balslev T, Borovikov A, Bouman AM, Brünger T, Butler E, Danvoye L, Deng AT, Drewes S, Engelen M, Freed AN, Freed AS, Froelich S, Futtrup L, Gati C, Goodspeed K, Hagebeuk EEO, Hajianpour MJ, Heidlebaugh AR, Hoffman TL, Howell KB, Johannesen KM, Kang JQ, Kava M, Khoury J, Klöckner C, Lal D, Lederer D, Lemke JR, Macnee M, May P, Montanucci L, Møller RS, Nouri MN, Oetjens K, Pal DK, Pérez-Palma E, Shinawi M, Stefanski A, Striano P, Tiller J, Trinidad M, van Engelen K, Wuster A

Brain : a journal of neurology · 2023 Dec 1

PubMed #37647852

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