{"id":"W2038192418","doi":"10.1016/j.bcmd.2005.05.008","title":"Functional characterization of the E399D DMT1/NRAMP2/SLC11A2 protein produced by an exon 12 mutation in a patient with microcytic anemia and iron overload","year":2005,"lang":"en","type":"article","venue":"Blood Cells Molecules and Diseases","topic":"Iron Metabolism and Disorders","field":"Medicine","cited_by":34,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University","funders":"National Institute of Allergy and Infectious Diseases; Canadian Institutes of Health Research; McGill University","keywords":"Exon; Microcytic anemia; Mutation; DMT1; Mutant; RNA splicing; Anemia; Biology; Genetics; Hereditary hemochromatosis; Chemistry; Cell biology; Hemochromatosis; Gene; Medicine; Internal medicine; RNA; Transporter","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":[0.0001630785,0.0007600858,0.000372646,0.0007272558,0.0004156715,0.0003640949,0.0003778922,0.001414748,0.001816472],"category_scores_gemma":[0.0007632061,0.000201322,0.0005239142,0.0003251229,0.0006365379,0.000228914,0.0002465331,0.0005450117,0.000577862],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003297759,"about_ca_system_score_gemma":0.0001494634,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001453318,"about_ca_topic_score_gemma":0.0006194055,"domain_scores_codex":[0.999797,0.00001855811,0.00003559487,0.00006771483,0.0000436691,0.00003749696],"domain_scores_gemma":[0.9996147,0.0001672142,0.00005994505,0.00001918222,0.00003974709,0.00009906632],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"case_report","study_design_scores_codex":[0.0007716408,0.0001321155,0.01521527,0.0000970496,0.00005067711,0.4405183,0.0006749296,0.0004083987,0.5377139,0.0004285994,0.0004492343,0.00354002],"study_design_scores_gemma":[0.0002455585,0.001000163,0.09441948,0.00004907817,0.0002917552,0.5807035,0.0005947463,0.006978553,0.3073908,0.0005836463,0.007675878,0.00006688102],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9971057,0.000309126,0.0008160307,0.0003315624,0.00006705098,0.00002207171,0.000430901,0.0000326266,0.0008850401],"genre_scores_gemma":[0.9980859,0.00008755797,0.0006694034,0.0001032057,0.0000328615,0.000007876453,0.0002438237,0.00002277639,0.0007466862],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001816472,"threshold_uncertainty_score":0.006076753,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.003122213420566796,"score_gpt":0.1759620313492086,"score_spread":0.1728398179286418,"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."}}