{"id":"W2077992380","doi":"10.1002/ajmg.b.30822","title":"Novel de novo SHANK3 mutation in autistic patients","year":2008,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part B Neuropsychiatric Genetics","topic":"Autism Spectrum Disorder Research","field":"Neuroscience","cited_by":322,"is_retracted":false,"has_abstract":true,"ca_institutions":"Montreal Children's Hospital; Hôpital Rivière-des-Prairies; Hôpital Notre-Dame; Centre Hospitalier Universitaire Sainte-Justine; Douglas Mental Health University Institute; McGill University; Centre Hospitalier de l’Université de Montréal; Université de Montréal","funders":"Genome Canada","keywords":"Missense mutation; Genetics; Gene; Biology; splice; Mutation; Phenotype; Autism; Splice site mutation; RNA splicing; Medicine; RNA","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.000620841,0.0002884109,0.0004924001,0.0006022012,0.0001559341,0.00003799215,0.001278494,0.0001188655,0.0001481784],"category_scores_gemma":[0.001627533,0.0002782199,0.0001470628,0.001674531,0.0008267243,0.00005709799,0.0002048048,0.001056806,0.00005496267],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000109557,"about_ca_system_score_gemma":0.001122809,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002168524,"about_ca_topic_score_gemma":0.00001964703,"domain_scores_codex":[0.9939306,0.0005351669,0.001222028,0.0004721998,0.002994176,0.000845827],"domain_scores_gemma":[0.9976944,0.000442305,0.0007083194,0.0003845952,0.00008976607,0.000680642],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0008109497,0.008923572,0.7500467,0.0001236249,0.00007941262,0.006836706,0.004324137,0.0145306,0.01231367,0.001262646,0.003158562,0.1975895],"study_design_scores_gemma":[0.008308527,0.007849002,0.9413694,0.00009565688,0.00009079045,0.01005931,0.0001625695,0.02005897,0.002630779,0.001404816,0.007032777,0.0009374233],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9854196,0.0004157296,0.009064785,0.003795554,0.0008478403,0.0002286745,0.00001390167,0.00001958123,0.0001943853],"genre_scores_gemma":[0.988983,0.004839659,0.00411354,0.001701323,0.0002608333,0.000005831917,0.000001733515,0.00006564588,0.00002848305],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1966521,"threshold_uncertainty_score":0.999967,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02844676047125743,"score_gpt":0.3047048426150434,"score_spread":0.2762580821437859,"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."}}