{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002527121,0.0001672773,0.0002123244,0.00002476526,0.00002951237,0.000008474785,0.0001345065,0.0001973845,0.0001045008],"category_scores_gemma":[0.00008216703,0.0001480671,0.00007817159,0.0001837804,0.0001241411,0.000005255275,0.000008508088,0.000125087,0.00001217963],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003690242,"about_ca_system_score_gemma":0.00004955606,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005232063,"about_ca_topic_score_gemma":0.001046638,"domain_scores_codex":[0.9989294,0.00006249917,0.0002060497,0.0003821073,0.0001649305,0.0002549796],"domain_scores_gemma":[0.9995934,0.00004319111,0.00005626912,0.0002237774,0.00002563036,0.00005772075],"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":[0.0001839584,0.0002331119,0.3372293,0.00002703792,0.00004292731,0.00002336263,0.0004200854,0.0001121653,0.6614293,0.000005837663,0.0002256088,0.00006728855],"study_design_scores_gemma":[0.004322397,0.001029813,0.9229243,0.0001555263,0.00005440968,0.000039527,0.001410736,0.0003886835,0.05168316,0.00003804573,0.01690245,0.001050893],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9983474,0.0002164647,0.0005605435,0.0001483672,0.00003578855,0.0002975076,0.00007110659,0.00002099593,0.0003018173],"genre_scores_gemma":[0.9930579,0.00001988826,0.00001270317,0.0001359429,0.00001088527,0.00001255353,0.006332543,0.00002105625,0.0003965251],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6097462,"threshold_uncertainty_score":0.6038002,"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."}}