{"id":"W3117321365","doi":"10.1101/mcs.a005900","title":"Isolated sulfite oxidase deficiency: a founder mutation","year":2020,"lang":"en","type":"article","venue":"Molecular Case Studies","topic":"Folate and B Vitamins Research","field":"Medicine","cited_by":6,"is_retracted":false,"has_abstract":true,"ca_institutions":"London Health Sciences Centre; Saskatchewan Health Authority; Western University; University of Manitoba; Children's Hospital Research Institute of Manitoba; Manitoba Health","funders":"National Institutes of Health","keywords":"Sulfite oxidase; Sulfite; Thiosulfate; Internal medicine; Medicine; Urinary system; Chemistry; Biochemistry; Endocrinology; Sulfur","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001013377,0.0001385768,0.0002420673,0.0000786,0.0001372387,0.00002160107,0.00003961108,0.00004800606,0.00003603873],"category_scores_gemma":[0.0004197171,0.0001116916,0.00009667789,0.0004606277,0.0001052191,0.00005340602,0.00008746899,0.0001638752,0.0001503144],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004750838,"about_ca_system_score_gemma":0.00005745142,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002811135,"about_ca_topic_score_gemma":0.00001003118,"domain_scores_codex":[0.9989356,0.00004934062,0.0001815976,0.0002834944,0.0002872469,0.0002626606],"domain_scores_gemma":[0.9993585,0.00003960088,0.0000296814,0.0001628178,0.0002569139,0.0001524278],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0007224464,0.0003321365,0.0008554995,0.0008618156,0.001322745,0.5676444,0.01115454,0.000065108,0.3955497,0.0008256729,0.005821834,0.01484415],"study_design_scores_gemma":[0.05191533,0.03565703,0.005831713,0.001267301,0.00679311,0.2027133,0.09603186,0.1308304,0.4198591,0.004451841,0.03869982,0.005949283],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9846538,0.005261479,0.003787418,0.004966618,0.00003735612,0.000341569,0.00000503173,0.00008905405,0.0008576774],"genre_scores_gemma":[0.9968881,0.0001097107,0.0005060621,0.0022242,0.00004031528,0.00002034477,0.00001243114,0.00002130441,0.0001775084],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3649312,"threshold_uncertainty_score":0.4554653,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06175434995706193,"score_gpt":0.3564808699752803,"score_spread":0.2947265200182184,"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."}}