{"id":"W2167591463","doi":"10.1046/j.1365-2141.2000.01920.x","title":"A new mutation (G51C) in the iron‐responsive element (IRE) of <scp>l</scp>‐ferritin associated with hyperferritinaemia–cataract syndrome decreases the binding affinity of the mutated IRE for iron‐regulatory proteins","year":2000,"lang":"en","type":"article","venue":"British Journal of Haematology","topic":"RNA and protein synthesis mechanisms","field":"Biochemistry, Genetics and Molecular Biology","cited_by":42,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"","keywords":"Ferritin; Point mutation; Mutation; Chemistry; Gene; Molecular biology; Cell biology; Biology; Genetics; Biochemistry","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"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":[0.0001841173,0.001536908,0.000473571,0.0007435448,0.001160613,0.0003395406,0.0006550948,0.001910219,0.003061775],"category_scores_gemma":[0.001039983,0.0002225668,0.0008985432,0.0005034073,0.001304368,0.0001909142,0.000439586,0.0007086844,0.0006926731],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001442419,"about_ca_system_score_gemma":0.001719128,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.06135723,"about_ca_topic_score_gemma":0.0559801,"domain_scores_codex":[0.999662,0.00004273102,0.00003424939,0.00009668932,0.00008877586,0.00007555111],"domain_scores_gemma":[0.9994611,0.0001694671,0.000120509,0.00004116769,0.00006992262,0.0001379074],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.001714494,0.0005063739,0.01915894,0.0003904859,0.0003528529,0.1587549,0.001060966,0.002030253,0.7796329,0.00174155,0.002823803,0.0318324],"study_design_scores_gemma":[0.0008680448,0.002720632,0.3090965,0.0002535506,0.0007417923,0.3312697,0.001137849,0.006259616,0.3187996,0.0009068827,0.02747447,0.0004712439],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9920543,0.0005684682,0.002519938,0.0004882061,0.0001901969,0.0001426656,0.0006183757,0.0001576035,0.003260192],"genre_scores_gemma":[0.99529,0.0002282582,0.002119169,0.0002649943,0.00006613287,0.00002609075,0.0003500585,0.00003806415,0.001617282],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.06135723,"threshold_uncertainty_score":0.1220002,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009340888441430854,"score_gpt":0.2231965172077383,"score_spread":0.2138556287663074,"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."}}