{"id":"W1997407692","doi":"10.1038/ng.2386","title":"Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism","year":2012,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Folate and B Vitamins Research","field":"Medicine","cited_by":237,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University and Génome Québec Innovation Centre; McGill University","funders":"Canadian Institutes of Health Research","keywords":"Biology; Genetics; Vitamin B12; ATP-binding cassette transporter; Gene; Mutation; Transporter; Biochemistry","routes":{"ca_aff":true,"ca_fund":true,"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":[],"consensus_categories":[],"category_scores_codex":[0.0001988447,0.000115857,0.0002463487,0.0002786217,0.00001987112,0.000006187898,0.0001059345,0.0003411118,0.0001218932],"category_scores_gemma":[0.0002127483,0.00009730955,0.00006395298,0.0005965647,0.00005145735,0.0000547372,0.00005289994,0.0006618499,0.00004248433],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003754739,"about_ca_system_score_gemma":0.0002112261,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000622931,"about_ca_topic_score_gemma":0.0001104934,"domain_scores_codex":[0.9988544,0.0000380955,0.0002338062,0.0001442244,0.0003797715,0.0003496891],"domain_scores_gemma":[0.9992422,0.00005529213,0.00004473204,0.0003083812,0.0001255879,0.000223811],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005270296,0.00230672,0.5850137,0.0006005141,0.0006780069,0.000187383,0.0118209,0.00009636958,0.2585588,0.001221133,0.04959881,0.08939061],"study_design_scores_gemma":[0.0019715,0.0001348058,0.8918193,0.00005598501,0.0001793574,0.00003860453,0.0002487108,0.0001703636,0.04980808,0.00009522426,0.05532549,0.000152562],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9853394,0.01209642,0.00003906536,0.0006824701,0.000336703,0.0002988653,0.00001872954,0.0000146054,0.001173759],"genre_scores_gemma":[0.9914267,0.0003245363,0.005110463,0.0002771642,0.0003563782,0.000007087989,0.00003941589,0.00002314756,0.002435092],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3068056,"threshold_uncertainty_score":0.3968168,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0308269740682474,"score_gpt":0.358764254153035,"score_spread":0.3279372800847876,"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."}}