{"id":"W2116064842","doi":"10.1038/ng1274","title":"Mutations in HFE2 cause iron overload in chromosome 1q–linked juvenile hemochromatosis","year":2003,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Iron Metabolism and Disorders","field":"Medicine","cited_by":976,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of British Columbia; Xenon Pharmaceuticals (Canada)","funders":"National and Kapodistrian University of Athens; BC Children's Hospital","keywords":"Hepcidin; Biology; HAMP; Hemochromatosis; Ferroportin; Positional cloning; Genetics; Hereditary hemochromatosis; Locus (genetics); Endocrinology; Internal medicine; Gene; Immunology; Medicine","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":[0.0002457326,0.001075096,0.000417939,0.0007872281,0.0005772953,0.000312589,0.0004044915,0.001484264,0.002585816],"category_scores_gemma":[0.0009748399,0.0002550422,0.0004339681,0.0004103383,0.0006507498,0.0002322043,0.0004105821,0.0006267157,0.000445738],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003542183,"about_ca_system_score_gemma":0.0001935901,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001685227,"about_ca_topic_score_gemma":0.001968693,"domain_scores_codex":[0.9998109,0.00003656296,0.00002233361,0.0000429247,0.00004924881,0.0000380959],"domain_scores_gemma":[0.9994012,0.0002821642,0.000116599,0.00002398377,0.00004646902,0.0001295275],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.002360665,0.0003985354,0.05268599,0.0001504799,0.0002671744,0.5026829,0.001460234,0.001366276,0.4194469,0.001354651,0.003461091,0.01436515],"study_design_scores_gemma":[0.00108625,0.0006772628,0.357509,0.00007646722,0.0004621135,0.5064381,0.001138159,0.005752464,0.1164935,0.00197291,0.008250943,0.0001429535],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9971671,0.0001786502,0.0009136365,0.0002439205,0.00005084847,0.00001578597,0.0001342913,0.00004580653,0.001249973],"genre_scores_gemma":[0.9986088,0.00006221915,0.0003955531,0.00007352127,0.00004772364,0.000006288029,0.0001045833,0.00002037867,0.0006810952],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002585816,"threshold_uncertainty_score":0.008650482,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009449364065446247,"score_gpt":0.2731200886924017,"score_spread":0.2636707246269555,"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."}}