{"id":"W2345781874","doi":"10.1136/jim-52-suppl1-365","title":"365 MOSAIC DUPLICATION FOR 15q10 - 15q11.2 RELATED TO AN EXTRA RING CHROMOSOME IN A BOY WITH AN ABNORMAL PHENOTYPE.","year":2004,"lang":"en","type":"article","venue":"Journal of Investigative Medicine","topic":"Glycosylation and Glycoproteins Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of British Columbia","funders":"","keywords":"Mosaic; Gene duplication; Phenotype; Genetics; Ring chromosome; Biology; Chromosome; Ring (chemistry); Karyotype; Gene; Chemistry; Art","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0007431576,0.0001381358,0.0002314269,0.0002072421,0.000062502,0.000013429,0.000199981,0.00009406053,0.00002349658],"category_scores_gemma":[0.0004651873,0.00009974679,0.00003077755,0.0003110206,0.0002116112,0.0000357255,0.00002150857,0.0002262827,0.000002227745],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000721865,"about_ca_system_score_gemma":0.0002701831,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00007143711,"about_ca_topic_score_gemma":0.0001822236,"domain_scores_codex":[0.9987506,0.00008005292,0.0004359364,0.0002180202,0.0002947873,0.0002206178],"domain_scores_gemma":[0.9988134,0.0000118826,0.0002274632,0.0002050653,0.0003833483,0.0003588207],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0006226435,0.0001258185,0.001130024,0.0000269535,0.00003890712,0.00002276142,0.00117151,0.00335009,0.9907529,0.0009548187,0.0001535478,0.001650051],"study_design_scores_gemma":[0.01640144,0.03281427,0.06508117,0.0009290205,0.00006443639,0.0003895423,0.002662082,0.001281611,0.8600237,0.01392562,0.005855985,0.0005711181],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9896209,0.0001849272,0.00529434,0.004290642,0.00004386198,0.0004226259,0.000005557568,0.000005411316,0.000131688],"genre_scores_gemma":[0.9921603,0.00001953829,0.006882122,0.0004657818,0.0002470644,0.00003633799,0.00006667821,0.00002181366,0.0001004267],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1307292,"threshold_uncertainty_score":0.4067556,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03123117510105095,"score_gpt":0.3159340593337611,"score_spread":0.2847028842327101,"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."}}