{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001535339,0.001566337,0.0004803865,0.001034285,0.0008270768,0.0003974021,0.0006829902,0.001497819,0.003734702],"category_scores_gemma":[0.0008515007,0.0002266149,0.0004348532,0.0003782971,0.0008814702,0.0002158372,0.0004805454,0.0006005475,0.0007323058],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007414533,"about_ca_system_score_gemma":0.0009532833,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01486879,"about_ca_topic_score_gemma":0.01706136,"domain_scores_codex":[0.9997551,0.00001604229,0.00002261721,0.00007825717,0.00007611052,0.00005178856],"domain_scores_gemma":[0.9996378,0.0001001442,0.0000555697,0.00001415432,0.00004835232,0.0001439294],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0003326224,0.0001959665,0.02822383,0.0001517957,0.00009230452,0.832121,0.001835489,0.0002394136,0.1208486,0.000872204,0.002012976,0.01307382],"study_design_scores_gemma":[0.0001337727,0.0004791747,0.08572465,0.00008741237,0.0001737097,0.871123,0.0005654286,0.001406311,0.03138555,0.000410292,0.008441916,0.00006888127],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9922969,0.001004628,0.001391829,0.0004824556,0.0001385873,0.00007254579,0.0006224481,0.0001614052,0.003829209],"genre_scores_gemma":[0.9961597,0.0002428614,0.001020842,0.0001651356,0.00007969169,0.000008126164,0.000206553,0.00002923192,0.002087841],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01486879,"threshold_uncertainty_score":0.0295645,"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."}}