{"id":"W2094453374","doi":"10.1002/ajmg.b.30903","title":"Characterization of a de novo translocation t(5;18)(q33.1;q12.1) in an autistic boy identifies a breakpoint close to<i>SH3TC2</i>,<i>ADRB2</i>, and<i>HTR4</i>on 5q, and within the desmocollin gene cluster on 18q","year":2008,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part B Neuropsychiatric Genetics","topic":"Cardiovascular Effects of Exercise","field":"Medicine","cited_by":13,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; SickKids Foundation; Centre for Addiction and Mental Health","funders":"Oesterreichische Nationalbank; National Alliance for Research on Schizophrenia and Depression","keywords":"Breakpoint; Biology; Genetics; Chromosomal translocation; Gene; Locus (genetics); Candidate gene","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"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":[0.00008405365,0.000561774,0.0003008718,0.0008370273,0.0003063359,0.0002361845,0.0002954513,0.0008440249,0.002810664],"category_scores_gemma":[0.000399702,0.0003035667,0.0003604187,0.0002899662,0.0004662395,0.0001657594,0.0002894825,0.0007657785,0.0005134169],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002041117,"about_ca_system_score_gemma":0.0001107347,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009759673,"about_ca_topic_score_gemma":0.001248857,"domain_scores_codex":[0.9998057,0.00001713274,0.00001544723,0.00007514208,0.00004022442,0.00004632947],"domain_scores_gemma":[0.9996486,0.00011199,0.0001120813,0.00001659253,0.00001937692,0.00009130722],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"case_report","study_design_scores_codex":[0.0005059658,0.0001419402,0.064167,0.0001428019,0.00004516193,0.1606016,0.001000423,0.0004388457,0.7582543,0.0003204179,0.0002276207,0.01415386],"study_design_scores_gemma":[0.00006848804,0.001498883,0.4578992,0.00004399786,0.0001039241,0.4228147,0.0006139887,0.001873731,0.1099421,0.0002841242,0.004817782,0.00003907992],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9982266,0.0001707449,0.001063376,0.00005570859,0.000007221589,0.00002536744,0.0001697812,0.00002490478,0.0002563167],"genre_scores_gemma":[0.9961714,0.0002181787,0.002713115,0.00003352801,0.00001101476,0.00001770436,0.000333214,0.00001119205,0.0004905211],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002810664,"threshold_uncertainty_score":0.009402573,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01260039660686881,"score_gpt":0.2724503299823952,"score_spread":0.2598499333755264,"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."}}