{"id":"W2320483694","doi":"10.1055/s-2006-943689","title":"NOVEL SHORT-CHAIN ACYL-COA DEHYDROGENASE GENE MUTATION (319 C>T) PRESENTS WITH HYPOTONIA, DEVELOPMENTAL DELAY, MULTICORE MYOPATHY AND CLINICAL HETEROGENEITY AND IS CANDIDATE FOUNDER MUTATION IN ASHKENAZI JEWS","year":2006,"lang":"en","type":"article","venue":"Neuropediatrics","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"","keywords":"Hypotonia; Medicine; Genetics; Mutation; Founder effect; Exome sequencing; Myopathy; Compound heterozygosity; Pediatrics; Gene; Biology; Internal medicine; Allele; Haplotype","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":[0.000122723,0.0005967668,0.000259446,0.0007322162,0.0004065423,0.0001827954,0.0002176044,0.0005539179,0.001988028],"category_scores_gemma":[0.0004160173,0.0001385808,0.0001747917,0.0005294341,0.0003477243,0.0001909338,0.000209284,0.0002872882,0.0002650799],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001783568,"about_ca_system_score_gemma":0.0003068709,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002447147,"about_ca_topic_score_gemma":0.003411569,"domain_scores_codex":[0.9998682,0.00001389755,0.0000173696,0.0000396078,0.00002779657,0.00003319318],"domain_scores_gemma":[0.9997976,0.00004776501,0.00005859529,0.000006325034,0.00001974859,0.00006982554],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"case_report","study_design_scores_codex":[0.0005743136,0.0004347583,0.7672259,0.00004434522,0.00006270161,0.132288,0.0008214221,0.0002167066,0.0882918,0.0002133173,0.0006314751,0.009195277],"study_design_scores_gemma":[0.0000821654,0.0006800856,0.7436347,0.00001728403,0.00006381337,0.2491451,0.0005183607,0.0005663063,0.004233541,0.0001156038,0.0009241413,0.00001887961],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9995841,0.00003030303,0.00008454719,0.00003215182,0.000001939763,0.000005129183,0.00008839631,0.000004614524,0.0001688311],"genre_scores_gemma":[0.9991233,0.00006348003,0.000308285,0.00003697239,0.00001420356,0.000009119838,0.0002215434,0.000004066444,0.0002191391],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002447147,"threshold_uncertainty_score":0.006650627,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01437782166404072,"score_gpt":0.2625261146499191,"score_spread":0.2481482929858784,"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."}}