Publication: SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis
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Authors
Stefanski, Arthur
Brünger, Tobias
Montanucci, Ludovica
Gati, Cornelius
Klöckner, Chiara
Johannesen, Katrine
Goodspeed, Kimberly
Macnee, Marie
Deng, Alexander
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Abstract
Genetic variants in the SLC6A1 gene can cause a broad phenotypic disease spectrum by altering the protein function. Thus, systematically curated clinically relevant genotype-phenotype associations are...
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Tiller, Jacob; Freed, Amber; Kang, Jing-Qiong; Wuster, Arthur; Møller, Rikke; Lal, Dennis.
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Citation
Stefanski A, Pérez-Palma E, Brünger T, Montanucci L, Gati C, Klöckner C, Johannesen KM, Goodspeed K, Macnee M, Deng AT, Aledo-Serrano Á, Borovikov A, Kava M, Bouman AM, Hajianpour MJ, Pal DK, Engelen M, Hagebeuk EEO, Shinawi M, Heidlebaugh AR, Oetjens K, Hoffman TL, Striano P, Freed AS, Futtrup L, Balslev T, Abulí A, Danvoye L, Lederer D, Balci T, Nouri MN, Butler E, Drewes S, van Engelen K, Howell KB, Khoury J, May P, Trinidad M, Froelich S, Lemke JR, Tiller J, Freed AN, Kang JQ, Wuster A, Møller RS, Lal D. SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis. Brain. 2023 Dec 1;146(12):5198-5208. doi: 10.1093/brain/awad292
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