European Journal of Human Genetics · 2019 · 73 citations · 44 references
Life SciencesGeneticsMolecular BiologyGenomicsMolecular NeuroscienceNeurogeneticsEpilepsy GeneticsFunctional GenomicsGenetic EpilepsiesIntellectual Disability GeneticsProtein Aggregation DisordersMosaic Variant Analysis
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Analysis of protein-coding genetic variation in 60,706 humans
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CDD/SPARCLE: functional classification of proteins via subfamily domain architectures
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FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism
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