{"id":"W2048226998","doi":"10.1089/gte.2007.0072","title":"New Mutations in the Wilson Disease Gene, <i>ATP7B</i> : Implications for Molecular Testing","year":2008,"lang":"en","type":"article","venue":"Genetic Testing","topic":"Trace Elements in Health","field":"Nursing","cited_by":52,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta","funders":"","keywords":"Missense mutation; Wilson's disease; Ceruloplasmin; Genetics; Gene; Biology; Mutation; Phenotype; Genotype; Disease; Medicine; Internal medicine; Endocrinology","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":[0.0002454858,0.0001635261,0.0001272725,0.0000928966,0.000589174,0.00004295039,0.0003261044,0.00003927984,0.000003107731],"category_scores_gemma":[0.00288163,0.0001552897,0.0000454774,0.0007685188,0.00004935276,0.00006481689,0.0000321055,0.000159317,0.000007443753],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00009380868,"about_ca_system_score_gemma":0.0002730447,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002984974,"about_ca_topic_score_gemma":0.00004372569,"domain_scores_codex":[0.9984038,0.0000979121,0.000431812,0.0003698372,0.0001872229,0.0005093603],"domain_scores_gemma":[0.9975041,0.001573237,0.0001585301,0.0004799907,0.0001179711,0.00016613],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00002233839,0.0001498833,0.7517175,0.00009029712,0.000009004557,0.00002662301,0.001865496,0.02070533,0.02698437,0.0001833834,0.001596467,0.1966493],"study_design_scores_gemma":[0.0005469262,0.0001082335,0.9879919,0.00006240716,0.00005252919,0.00008037886,0.00007762096,0.004182893,0.0005917799,0.005489063,0.0006181276,0.0001981941],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9455251,0.000826147,0.04474828,0.00636286,0.0002428321,0.001630996,0.0000460936,0.0002001425,0.0004176101],"genre_scores_gemma":[0.6633312,0.000001313454,0.335254,0.0009510021,0.0001866816,0.0002106144,0.00001758327,0.00003445424,0.00001316989],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2905058,"threshold_uncertainty_score":0.6332528,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.08191843773548349,"score_gpt":0.335725393249537,"score_spread":0.2538069555140535,"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."}}