{"id":"W1605235489","doi":"10.1034/j.1399-0004.2003.00160.x","title":"Genetic variation in the promoter and 5′ UTR of the copper transporter, <i>ATP7B</i>, in patients with Wilson disease","year":2003,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Trace Elements in Health","field":"Nursing","cited_by":30,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta","funders":"Canadian Institutes of Health Research","keywords":"Genetics; Biology; Gene; Exon; Coding region; Untranslated region; Mutation; Intron; Single-nucleotide polymorphism; Ceruloplasmin; Genotype; RNA","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0002113388,0.0005025297,0.0002970491,0.0006356824,0.0004607352,0.000304131,0.0002237359,0.0005801644,0.001086569],"category_scores_gemma":[0.001175465,0.0002628734,0.0002055487,0.0005194383,0.0004485263,0.0001285192,0.0001936796,0.0003247401,0.0001593377],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000319119,"about_ca_system_score_gemma":0.000149495,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003923017,"about_ca_topic_score_gemma":0.003821081,"domain_scores_codex":[0.9997247,0.00005951074,0.00004069574,0.00008997396,0.00004249359,0.00004258406],"domain_scores_gemma":[0.9996309,0.0001345613,0.0001311507,0.00001557739,0.00002928314,0.00005836419],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001655081,0.0002066061,0.8870853,0.00007075226,0.0001785096,0.01844036,0.002197132,0.000512954,0.07631039,0.0003371875,0.0004097932,0.01259597],"study_design_scores_gemma":[0.0001060554,0.0005603246,0.963415,0.0000302093,0.0001430556,0.02945065,0.0005024981,0.0008978669,0.003760272,0.0002117419,0.0008987052,0.00002370484],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9996512,0.00006183147,0.00008618467,0.00002731132,0.000003355423,0.000003088084,0.00003058087,0.000004359834,0.0001320509],"genre_scores_gemma":[0.9996332,0.00002724102,0.0001286979,0.00002944001,0.000004107526,0.000002369533,0.00004914436,0.000002943174,0.0001229689],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003923017,"threshold_uncertainty_score":0.0078004,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02641040936536121,"score_gpt":0.3160066771244351,"score_spread":0.2895962677590739,"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."}}