{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003312354,0.002293402,0.001242326,0.002256875,0.001514326,0.0008088872,0.001209493,0.002974692,0.004540285],"category_scores_gemma":[0.001630203,0.001074002,0.0007224273,0.001286298,0.001918203,0.0006300122,0.001132588,0.001595507,0.0008069455],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008821813,"about_ca_system_score_gemma":0.001066847,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0045176,"about_ca_topic_score_gemma":0.004158305,"domain_scores_codex":[0.9992555,0.00009824787,0.0000596653,0.0002746206,0.0001393449,0.0001726092],"domain_scores_gemma":[0.9988751,0.0003877112,0.0003149002,0.0000548491,0.00004369895,0.0003236441],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.00009945245,0.00002846579,0.00382239,0.00003443809,0.00001947388,0.9869359,0.0001256018,0.0001322893,0.00721543,0.0003851332,0.0002645599,0.0009368876],"study_design_scores_gemma":[0.00005065684,0.00016624,0.0180358,0.00002283768,0.00005410985,0.9778063,0.0001321077,0.0003035135,0.002415968,0.0002726379,0.0007193029,0.00002055226],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9913325,0.001324097,0.001404807,0.0009114218,0.0001535139,0.000075206,0.0005457303,0.0001428935,0.004109946],"genre_scores_gemma":[0.9966311,0.0003701033,0.001157598,0.0001400803,0.0001191482,0.00001759349,0.0001298436,0.00003776123,0.001396841],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004540285,"threshold_uncertainty_score":0.01518881,"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."}}