{"id":"W2018395215","doi":"10.1515/cclm.2006.196","title":"Molecular assay for detection of the common carnitine palmitoyltransferase 1A 1436(C&gt;T) mutation","year":2006,"lang":"en","type":"article","venue":"Clinical Chemistry and Laboratory Medicine (CCLM)","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":10,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Carnitine; Mutation; Biology; Carnitine O-palmitoyltransferase; Molecular biology; Genotype; Polymerase chain reaction; Enzyme; Gene; Beta oxidation; Endocrinology; Genetics; Biochemistry","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004829561,0.0009587301,0.0003887135,0.001628089,0.0003682846,0.0002547481,0.0004974607,0.0008477742,0.004999827],"category_scores_gemma":[0.0009589544,0.0002771306,0.0003616564,0.0005871055,0.0004262274,0.0001333066,0.0002182664,0.0006459342,0.002874487],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005306342,"about_ca_system_score_gemma":0.0004809065,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003674174,"about_ca_topic_score_gemma":0.007658971,"domain_scores_codex":[0.9989849,0.0001398489,0.0000590184,0.0002487843,0.0004571202,0.0001103348],"domain_scores_gemma":[0.9992629,0.0001936994,0.0001474425,0.00005886599,0.0002245367,0.0001125251],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00007243712,0.00004277386,0.003346272,0.00004729797,0.00001177178,0.0002723937,0.0000426836,0.0000465852,0.9917586,0.00006836013,0.000206635,0.004083975],"study_design_scores_gemma":[0.00004503511,0.0006680045,0.04925257,0.00004506819,0.00008587304,0.005766748,0.00009426445,0.002213021,0.9329971,0.000129473,0.008675166,0.00002756498],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8142553,0.003638771,0.1569014,0.0007022643,0.0003300598,0.001013211,0.004662969,0.002002341,0.01649375],"genre_scores_gemma":[0.787966,0.002456649,0.1898798,0.000648965,0.00006776772,0.000632113,0.00627299,0.0002132232,0.0118626],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004999827,"threshold_uncertainty_score":0.01672608,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009068849047421038,"score_gpt":0.285621633773943,"score_spread":0.2765527847265219,"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."}}