{"id":"W2003315040","doi":"10.1074/jbc.m603316200","title":"CACNA1H Mutations in Autism Spectrum Disorders","year":2006,"lang":"en","type":"article","venue":"Journal of Biological Chemistry","topic":"Autism Spectrum Disorder Research","field":"Neuroscience","cited_by":257,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Heart, Lung, and Blood Institute; Canadian Institutes of Health Research; Fondation pour la Recherche Médicale; National Institutes of Health; Charles H. Hood Foundation","keywords":"Missense mutation; Autism; Autism spectrum disorder; Genetics; Neurodevelopmental disorder; Phenotype; Calcium channel; Heritability of autism; Mutation; Biology; Gene; Psychology; Medicine; Psychiatry; Internal medicine","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001749449,0.0004406964,0.0003230873,0.0008826446,0.0004830862,0.0002387763,0.0002850675,0.0006862381,0.002811788],"category_scores_gemma":[0.0009573318,0.0001047523,0.000159983,0.0005482736,0.0002871146,0.0001552776,0.0003422985,0.0001874005,0.000392092],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002742146,"about_ca_system_score_gemma":0.0001687279,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002280293,"about_ca_topic_score_gemma":0.001756013,"domain_scores_codex":[0.9997684,0.00002296699,0.00002650593,0.00007806218,0.00007409424,0.0000299065],"domain_scores_gemma":[0.9997854,0.00005217367,0.00006969847,0.000009341013,0.00002389437,0.00005955847],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002120684,0.0001815066,0.5812996,0.0008033038,0.0002745136,0.07423903,0.001506879,0.001076792,0.1386639,0.001893554,0.01253536,0.185405],"study_design_scores_gemma":[0.0001633374,0.0001778516,0.8436775,0.0002329299,0.0001324928,0.1130475,0.000326213,0.0007114126,0.01064182,0.001272117,0.02957384,0.00004297095],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9691083,0.01700916,0.0008532858,0.0005957242,0.0001734557,0.00006669297,0.001104646,0.0001046877,0.01098419],"genre_scores_gemma":[0.9937068,0.002858055,0.0009496987,0.0001798065,0.0001153555,0.00002392413,0.0005455833,0.00001334202,0.001607485],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002811788,"threshold_uncertainty_score":0.009406388,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0266949956118094,"score_gpt":0.2908311098058574,"score_spread":0.264136114194048,"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."}}