{"id":"W2040419874","doi":"10.1002/ajmg.a.32474","title":"High copper levels and increased elastolysis in a patient with cutis marmorata teleangiectasia congenita","year":2008,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Cell Adhesion Molecules Research","field":"Medicine","cited_by":13,"is_retracted":false,"has_abstract":true,"ca_institutions":"Mount Sinai Hospital; SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"","keywords":"Tropoelastin; Elastin; Telangiectasia; Phenotype; Chemistry; Endocrinology; Pathology; Internal medicine; Biology; Medicine; Biochemistry","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":[0.0001401498,0.0009804155,0.0005069613,0.001061402,0.0008051927,0.0003322781,0.0003387919,0.001452697,0.0009680432],"category_scores_gemma":[0.0007969296,0.0004717188,0.0002977841,0.0006705595,0.0006439749,0.0002739535,0.0004121845,0.0009370156,0.0001654815],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003672557,"about_ca_system_score_gemma":0.0001685317,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001276773,"about_ca_topic_score_gemma":0.001345355,"domain_scores_codex":[0.9997643,0.00003273119,0.00002993594,0.0000849974,0.00004055899,0.00004761783],"domain_scores_gemma":[0.9996269,0.0001029538,0.0001246698,0.00002266894,0.00002001752,0.0001027629],"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":[0.0003277708,0.00009907505,0.06308173,0.00009514071,0.00004618125,0.8862165,0.0007195896,0.0001069038,0.04446055,0.0001333695,0.0001822471,0.004530928],"study_design_scores_gemma":[0.00002036501,0.000387239,0.06977015,0.00001044996,0.00004396058,0.923893,0.0001374002,0.0002446046,0.004909646,0.00005895673,0.0005107547,0.00001347588],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9981453,0.0005980641,0.0003542672,0.0001304776,0.00001088814,0.00001722686,0.00005427525,0.00004282178,0.0006466867],"genre_scores_gemma":[0.999273,0.000182068,0.0002358268,0.00004444992,0.00002129012,0.000004285873,0.00003659193,0.000004597435,0.0001979083],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001452697,"threshold_uncertainty_score":0.00323844,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01943064949473501,"score_gpt":0.2817729671262157,"score_spread":0.2623423176314807,"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."}}