{"id":"W2133268214","doi":"10.1182/blood-2002-01-0133","title":"Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation","year":2002,"lang":"en","type":"article","venue":"Blood","topic":"Iron Metabolism and Disorders","field":"Medicine","cited_by":108,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's & Women's Health Centre of British Columbia; Vancouver General Hospital; BC Children's Hospital; BC Cancer Agency","funders":"BC Cancer Agency","keywords":"Hereditary hemochromatosis; Hemochromatosis; Genetics; Missense mutation; Transferrin receptor; Mutation; Biology; Transferrin; Exon; Gene; Receptor; Endocrinology","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001668764,0.0001008884,0.0002532416,0.0003764977,0.00002722137,0.00001090363,0.00004022204,0.00007534192,0.0002724558],"category_scores_gemma":[0.00006694528,0.0001014155,0.00007993265,0.0006224609,0.00005054665,0.0001078746,0.000005683351,0.00007341804,0.00001269199],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001097203,"about_ca_system_score_gemma":0.00001679013,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001295491,"about_ca_topic_score_gemma":0.00007240342,"domain_scores_codex":[0.9989818,0.00002374501,0.0003873289,0.0002289785,0.000254794,0.0001233105],"domain_scores_gemma":[0.9996041,0.00003696182,0.00008930502,0.0001497544,0.00006298449,0.00005688094],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0004663716,0.0117456,0.2368026,0.001255481,0.0007634343,0.00003648966,0.02078153,0.00183159,0.7005464,0.001732448,0.0004850973,0.02355293],"study_design_scores_gemma":[0.01156465,0.000125892,0.9602631,0.00003355604,0.001821524,0.00001636473,0.0008155268,0.006316801,0.01871067,0.00005270056,0.00008799854,0.000191175],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.996005,0.0004960253,0.002321489,0.0002653443,0.00003754834,0.000258903,0.00005440968,0.00001333399,0.0005479279],"genre_scores_gemma":[0.9981579,0.0001190198,0.001073286,0.00006416134,0.00003449834,0.0000215481,0.0001764686,0.00001047332,0.000342638],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7234605,"threshold_uncertainty_score":0.4135606,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01171936462174646,"score_gpt":0.2455629447336697,"score_spread":0.2338435801119232,"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."}}