{"id":"W1980558630","doi":"10.1016/j.ymgme.2009.06.003","title":"Transcobalamin II deficiency at birth","year":2009,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism","topic":"Porphyrin Metabolism and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":28,"is_retracted":false,"has_abstract":false,"ca_institutions":"Western University; Children’s Health Research Institute","funders":"","keywords":"Hydroxocobalamin; Cobalamin; Medicine; Pancytopenia; Pediatrics; Compound heterozygosity; Internal medicine; Physiology; Endocrinology; Vitamin B12; Mutation; Cyanocobalamin; Biology; Genetics; Gene","routes":{"ca_aff":true,"ca_fund":false,"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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.000151629,0.0002838632,0.0002440925,0.00007434888,0.0002273084,0.00003324843,0.000231007,0.0001692301,0.00002493539],"category_scores_gemma":[0.00002655312,0.0002727763,0.000144067,0.0001448298,0.0001057538,0.000003698376,0.0001342598,0.00007976942,0.000008239726],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000004139103,"about_ca_system_score_gemma":0.00004396007,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000007319991,"about_ca_topic_score_gemma":0.000007688083,"domain_scores_codex":[0.9984803,0.00005587766,0.0002478359,0.0005469925,0.0002224279,0.0004465973],"domain_scores_gemma":[0.9991924,0.000002489584,0.00006497549,0.0004732003,0.00005741584,0.0002095563],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00003479584,0.00009968852,0.0002541353,0.000006689168,0.00001992404,0.000008147979,0.00008199909,0.00006063568,0.9819276,0.003297426,0.0008973462,0.01331163],"study_design_scores_gemma":[0.001635043,0.0002846957,0.05307883,0.000004925865,0.000107839,0.00004745118,0.00003312255,0.00005429926,0.4691593,0.002503958,0.4724872,0.0006033651],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9215539,0.06994732,0.00311006,0.0002791717,0.0001671033,0.0001940003,0.00002664004,0.00002053565,0.004701342],"genre_scores_gemma":[0.9900751,0.005084007,0.001903719,0.001813171,0.000113509,0.00001060308,0.00006298879,0.00002795129,0.0009090021],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5127683,"threshold_uncertainty_score":0.9999725,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.003889609508695956,"score_gpt":0.211600009632693,"score_spread":0.2077104001239971,"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."}}