{"id":"W2993619711","doi":"10.1093/brain/awz374","title":"Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability","year":2019,"lang":"en","type":"article","venue":"Brain","topic":"Cellular transport and secretion","field":"Biochemistry, Genetics and Molecular Biology","cited_by":46,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Concordia University","funders":"National Institute of Neurological Disorders and Stroke; National Institute of General Medical Sciences; National Human Genome Research Institute; Muscular Dystrophy Association; Natural Sciences and Engineering Research Council of Canada; Canadian Institutes of Health Research; Uehara Memorial Foundation; National Heart, Lung, and Blood Institute","keywords":"Biology; Genetics; Microcephaly; RNA splicing; Protein subunit; Exon; Hereditary spastic paraplegia; Guanine nucleotide exchange factor; Intellectual disability; GTPase; Gene; Phenotype; RNA","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001836478,0.001845976,0.0004406254,0.001787471,0.0007511661,0.000343512,0.0005028618,0.0007225991,0.00311573],"category_scores_gemma":[0.0008079623,0.0002281179,0.0003663535,0.000997102,0.0008235309,0.0001690374,0.0007985891,0.0004318044,0.0005096326],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00044853,"about_ca_system_score_gemma":0.0005022249,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005104025,"about_ca_topic_score_gemma":0.004842755,"domain_scores_codex":[0.9996854,0.0000453215,0.00004721323,0.00007574687,0.00009619656,0.00005017662],"domain_scores_gemma":[0.9994227,0.0001029924,0.0002982857,0.00002860566,0.00004969778,0.00009779127],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.002821765,0.0003237372,0.2919067,0.0004758799,0.0008884644,0.2698217,0.001626361,0.001439979,0.3977681,0.001336835,0.002450655,0.02913983],"study_design_scores_gemma":[0.0001491726,0.0007225132,0.6717393,0.0001259662,0.0005256165,0.281294,0.0008530552,0.002397291,0.03417857,0.0007759693,0.007155658,0.00008279082],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9974963,0.0002799396,0.0007705329,0.00009478191,0.00001100144,0.00002067764,0.0005106751,0.00006184799,0.0007541141],"genre_scores_gemma":[0.9982461,0.0001980684,0.0005013998,0.00003198165,0.00001406906,0.00001089056,0.0004820421,0.00001446416,0.0005010832],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005104025,"threshold_uncertainty_score":0.01042318,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005457558653029555,"score_gpt":0.1854110884297783,"score_spread":0.1799535297767487,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}