Bioinformatics Analysis Revealed Novel 3′UTR Variants Associated with Intellectual Disability
نویسندگان
چکیده
منابع مشابه
Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis.
Mutations in interleukin-1 receptor accessory protein like 1 (IL1RAPL1) gene have been associated with non-syndromic intellectual disability (ID) and autism spectrum disorder. This protein interacts with synaptic partners like PSD-95 and PTPδ, regulating the formation and function of excitatory synapses. The aim of this work was to characterize the synaptic consequences of three IL1RAPL1 mutati...
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1 Department of Human Genetics, University of Michigan, Ann Arbor, MI, United States, 2 Diagnostic Laboratory, Greenwood Genetic Center, Greenwood, SC, United States, 3 Molecular & Behavioral Neuroscience Institute, University of Michigan, Ann Arbor, MI, United States, 4 Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, United States, 5 Department o...
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ژورنال
عنوان ژورنال: Genes
سال: 2020
ISSN: 2073-4425
DOI: 10.3390/genes11090998