{"id":"W2058347131","doi":"10.1111/j.1399-0004.2009.01247_1.x","title":"MCAD mutations identified in newborn screening cause different levels of enzymatic dysfunction","year":2009,"lang":"en","type":"letter","venue":"Clinical Genetics","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"","keywords":"Genetics; Enzyme; Mutation; Molecular genetics; Newborn screening; Mechanism (biology); Biology; Gene; Medicine; Biochemistry","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":[0.0007299049,0.001034864,0.001381393,0.0007364819,0.0008816738,0.001146344,0.0008999951,0.01359809,0.002826075],"category_scores_gemma":[0.007336209,0.0004232732,0.0006681255,0.0004415528,0.001361008,0.001287042,0.0005151171,0.00744302,0.002254675],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001364096,"about_ca_system_score_gemma":0.000445222,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001453187,"about_ca_topic_score_gemma":0.001479617,"domain_scores_codex":[0.9992691,0.0001888602,0.0001153717,0.0001324713,0.0001621367,0.0001321054],"domain_scores_gemma":[0.9978577,0.001301899,0.0001521722,0.0001121332,0.0002660238,0.000310139],"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":[0.001057015,0.0001725544,0.01785974,0.0002428298,0.0001025267,0.6482404,0.0005255942,0.0004473024,0.007991016,0.00556871,0.2762841,0.04150824],"study_design_scores_gemma":[0.0005129166,0.0005945654,0.02578561,0.0003099719,0.0001660141,0.7853749,0.000498467,0.005187393,0.008430857,0.01395041,0.1590061,0.000182665],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"commentary","genre_gemma":"empirical","genre_scores_codex":[0.08909022,0.006762403,0.002884857,0.8480871,0.02312686,0.0000914995,0.0005667849,0.0004835792,0.02890666],"genre_scores_gemma":[0.5781021,0.008270196,0.003915644,0.3235302,0.06173568,0.0001124862,0.0003041227,0.0001423315,0.02388725],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.01359809,"threshold_uncertainty_score":0.009897292,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.07718920040518672,"score_gpt":0.3549021298809536,"score_spread":0.2777129294757669,"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."}}