{"id":"W2609933540","doi":"10.1093/hmg/ddx157","title":"Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities","year":2017,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Folate and B Vitamins Research","field":"Medicine","cited_by":69,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University","funders":"National Institute on Minority Health and Health Disparities; National Institute of General Medical Sciences; National Institute of Neurological Disorders and Stroke; National Institute of Mental Health; National Institutes of Health","keywords":"Biology; Cobalamin; Inborn error of metabolism; Genetics; Mutation; Endocrinology; Gene; Vitamin B12","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":[0.0001066892,0.001930976,0.0004656478,0.0007192547,0.0006898532,0.0003955016,0.0004377886,0.001329911,0.002748801],"category_scores_gemma":[0.0005750476,0.0002647914,0.0004161346,0.0004659804,0.0006338445,0.0001986729,0.00064421,0.0006701123,0.0005375994],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000406676,"about_ca_system_score_gemma":0.0003454707,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001826059,"about_ca_topic_score_gemma":0.00174083,"domain_scores_codex":[0.9997537,0.00002369784,0.00002737024,0.00008152096,0.00006855515,0.00004522093],"domain_scores_gemma":[0.9996626,0.0001040625,0.00008364114,0.0000142332,0.00002054329,0.0001149434],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.000391295,0.0001005775,0.01784029,0.0001886123,0.0000942579,0.7101444,0.0006457039,0.0006455251,0.256278,0.0006499145,0.001396443,0.0116249],"study_design_scores_gemma":[0.0000873211,0.0003764353,0.06964727,0.00006144745,0.0001617927,0.8654513,0.0003374716,0.001782662,0.05435077,0.0003687773,0.00732125,0.00005361341],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9929717,0.0007327113,0.002536782,0.0004602514,0.0001137594,0.00006409578,0.000694033,0.0001613025,0.002265352],"genre_scores_gemma":[0.9958451,0.0003255129,0.001079521,0.0001233054,0.00006319782,0.00001764829,0.0003162595,0.00002533262,0.002203992],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002748801,"threshold_uncertainty_score":0.009195626,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06399317738677784,"score_gpt":0.3666355026666991,"score_spread":0.3026423252799212,"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."}}