{"id":"W2168947921","doi":"10.1093/hmg/ddr122","title":"SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function","year":2011,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Cellular transport and secretion","field":"Biochemistry, Genetics and Molecular Biology","cited_by":236,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Université de Sherbrooke; Hôpital Notre-Dame","funders":"Ministero della Salute; Savoy Foundation; Canadian Institutes of Health Research; Genome Canada; Compagnia di San Paolo; Brown University","keywords":"Biology; Synapsin; Nonsense mutation; Synaptogenesis; Epilepsy; Missense mutation; Mutation; Genetics; Autism; Neuroscience; Synaptic vesicle; Gene; Psychiatry; Psychology","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":[0.000111215,0.0009231652,0.0002146999,0.0005715998,0.0003228358,0.0002143659,0.0002295991,0.000419947,0.001079995],"category_scores_gemma":[0.0002193657,0.0001299537,0.000168083,0.0002626812,0.0003567386,0.0000879675,0.000287704,0.0001534586,0.0004315102],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004765058,"about_ca_system_score_gemma":0.0003940257,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.006930216,"about_ca_topic_score_gemma":0.01102354,"domain_scores_codex":[0.999894,0.000007593762,0.00001259556,0.00002279451,0.00004609565,0.00001683524],"domain_scores_gemma":[0.9999224,0.000009632647,0.0000363663,0.000003883088,0.000009376112,0.00001835507],"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":[0.0006121682,0.00006915192,0.03889045,0.0002259527,0.0001492384,0.02225295,0.0002828577,0.0008749541,0.9124122,0.000568419,0.001215947,0.02244574],"study_design_scores_gemma":[0.0000965522,0.0005718467,0.6616771,0.00009089307,0.0003563734,0.1439997,0.0003910057,0.002480565,0.17011,0.0006421997,0.01953505,0.00004887692],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9930189,0.002982057,0.0007262742,0.0001180184,0.00001481759,0.00001828732,0.0004515142,0.00009944933,0.002570714],"genre_scores_gemma":[0.9963816,0.001415384,0.000479042,0.0000596302,0.000008428077,0.000006838373,0.0003967747,0.00001137649,0.00124077],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006930216,"threshold_uncertainty_score":0.0137797,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02148737578823093,"score_gpt":0.2345996364283168,"score_spread":0.2131122606400858,"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."}}