{"id":"W2141781831","doi":"10.1177/0883073811430268","title":"Abnormal Myelination in Ring Chromosome 18 Syndrome","year":2012,"lang":"en","type":"article","venue":"Journal of Child Neurology","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":14,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University","funders":"","keywords":"Ring chromosome; Chromosome 18; Chromosome; Genetics; Biology; Long arm; Deletion syndrome; Phenotype; Gene; Karyotype","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":[0.0001739706,0.0008320062,0.0004539343,0.00112323,0.0004343445,0.000356579,0.0003622736,0.0009843971,0.002724222],"category_scores_gemma":[0.001368546,0.0002873123,0.0001971897,0.0005081478,0.0007115446,0.0003219432,0.0006964188,0.0004431014,0.0005624263],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002477135,"about_ca_system_score_gemma":0.0003124889,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007301884,"about_ca_topic_score_gemma":0.0007012028,"domain_scores_codex":[0.9997711,0.00003771939,0.00002565125,0.00005609544,0.00005765068,0.00005178597],"domain_scores_gemma":[0.9995304,0.0001287772,0.0001660853,0.00002313901,0.00002792375,0.0001236743],"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":[0.0002895053,0.00002570187,0.03029245,0.0000917144,0.00003414856,0.9178249,0.000558929,0.0002821723,0.04137169,0.0008254745,0.0006799116,0.007723312],"study_design_scores_gemma":[0.00003166917,0.0001385956,0.0229834,0.00001682863,0.00003401909,0.9676121,0.0001369237,0.000272341,0.006509157,0.0004518979,0.001798183,0.00001493104],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.994321,0.001196835,0.0008485991,0.0002696187,0.00003884995,0.00001859609,0.0001199646,0.0001013984,0.003085217],"genre_scores_gemma":[0.9974649,0.0006696128,0.0007633614,0.00004874969,0.00004911362,0.000006407858,0.00005857661,0.00001630613,0.0009231196],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002724222,"threshold_uncertainty_score":0.009113431,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008049555898474342,"score_gpt":0.2223273861969697,"score_spread":0.2142778302984953,"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."}}