{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002423541,0.0008063691,0.0008815633,0.001750953,0.001345375,0.0007840295,0.0008432817,0.001585335,0.002736669],"category_scores_gemma":[0.001772726,0.0003653007,0.000494847,0.0007499733,0.001013915,0.0006274726,0.0006006168,0.002103229,0.0004039896],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008455281,"about_ca_system_score_gemma":0.0005940039,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002489511,"about_ca_topic_score_gemma":0.0009165002,"domain_scores_codex":[0.9997082,0.00002543591,0.00002581108,0.00007166927,0.00005283356,0.0001160216],"domain_scores_gemma":[0.9990435,0.00026897,0.0001769122,0.0001058229,0.0001119236,0.0002928181],"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":[0.001939766,0.0003093201,0.03727709,0.0001887085,0.00008964461,0.8454922,0.001575386,0.0004307942,0.08057929,0.005474804,0.001456744,0.02518619],"study_design_scores_gemma":[0.0001026374,0.001643562,0.09926585,0.000212121,0.0003148058,0.8117463,0.0008166236,0.0005489594,0.07042829,0.005075085,0.009725253,0.0001205211],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9845014,0.001833167,0.001340404,0.001346509,0.0004982009,0.00003403504,0.0003776605,0.0002076981,0.009860859],"genre_scores_gemma":[0.9929072,0.00126107,0.0004257823,0.0001559249,0.000135606,0.00001341034,0.0001552536,0.00003803927,0.004907698],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002736669,"threshold_uncertainty_score":0.009155035,"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."}}