MED13 Gene Mutation Related to Autism Spectrum Disorder: A Case Report
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Publisher
Springer Science and Business Media LLC
Reference8 articles.
1. An 800 kb deletion at 17q23.2 including the MED13 (THRAP1) gene, revealed by aCGH in a patient with a SMC 17p;Boutry-Kryza N;Am J Med Genet A,2012
2. Further delineation of the phenotypic spectrum of pathogenic variants in MED13;Povolotskaya IS;Res Sq,2021
3. Mutations in mediator complex genes CDK8, MED12, MED13, and MEDL13 mediate overlapping developmental syndromes;Poot M;Mol Syndromol,2020
4. Autism. Genetic and biological aspects [Article in Spanish];Arberas C;Medicina,2019
5. Trap240 (human). (2023). https.//www.phosphosite.org/proteinAction?id=5994&showAllSites=true.
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