{"id":"W1485603813","doi":"10.1034/j.1399-0004.2001.600111.x","title":"Hemochromatosis mutations C282Y and H63D in ‘cis’ phase","year":2001,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Iron Metabolism and Disorders","field":"Medicine","cited_by":40,"is_retracted":false,"has_abstract":true,"ca_institutions":"Health Sciences Centre; University of Manitoba","funders":"","keywords":"Hemochromatosis; Hereditary hemochromatosis; Genetics; Genotyping; Compound heterozygosity; Mutation; Genotype; Biology; Gene","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":[0.0002115473,0.00008603313,0.0002523246,0.00005956056,0.00002956842,0.00001003593,0.00004580919,0.0001126472,0.0001432352],"category_scores_gemma":[0.0003325935,0.00007817578,0.00006084118,0.000170822,0.0001681401,0.00001872191,0.00002981795,0.0001506545,0.00005506403],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000004913276,"about_ca_system_score_gemma":0.00005453781,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000006945253,"about_ca_topic_score_gemma":0.00001493985,"domain_scores_codex":[0.99904,0.00004663577,0.0004262738,0.0002069182,0.0001104234,0.0001697665],"domain_scores_gemma":[0.9993716,0.0001565388,0.00004324304,0.0002138559,0.00003418581,0.000180597],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003307852,0.002168566,0.7118668,0.0000725885,0.00002189996,0.0001603014,0.0003498731,0.00001929814,0.0006769352,0.0002749242,0.002904931,0.2811531],"study_design_scores_gemma":[0.01784219,0.0009285147,0.9169762,0.00004999964,0.0002568351,0.00008612862,0.0005121327,0.001633943,0.0003674583,0.001809177,0.05926571,0.0002717761],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9931368,0.002329319,0.0004114137,0.0009801056,0.0001801678,0.0001828177,0.00000454546,0.00002278824,0.002752062],"genre_scores_gemma":[0.9895889,0.004447994,0.003682939,0.001538892,0.0001592911,0.000006808458,0.0000204476,0.00001428095,0.000540484],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2808813,"threshold_uncertainty_score":0.3187916,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06796454459862289,"score_gpt":0.4315922529461418,"score_spread":0.3636277083475189,"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."}}