{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0002620168,0.0002697854,0.0002283667,0.00008783228,0.00009993242,0.00006469476,0.0001177413,0.000167299,0.000002281915],"category_scores_gemma":[0.00008650436,0.0002511897,0.00004702977,0.000186142,0.0001176285,0.00001732636,0.0001469768,0.0001318842,0.000003327265],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000008900632,"about_ca_system_score_gemma":0.0001176969,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001933434,"about_ca_topic_score_gemma":0.001682746,"domain_scores_codex":[0.9981418,0.0001155403,0.000484561,0.0006904181,0.0002419522,0.0003257774],"domain_scores_gemma":[0.9993911,0.00003686571,0.0001254862,0.0002169598,0.00008259839,0.0001469298],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004304961,0.0004767826,0.9298145,0.00005296077,0.00006098926,0.0001913387,0.0001323548,0.0007015566,0.05545046,0.000005511348,0.0003152374,0.01236777],"study_design_scores_gemma":[0.005456924,0.00050001,0.9461566,0.00000823262,0.0001764323,0.0004539096,0.00007174357,0.003928876,0.0392266,0.00003902264,0.003255783,0.0007258765],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9958051,0.001300468,0.002070328,0.00004005592,0.0001199236,0.0004940165,0.00007890659,0.00001178017,0.0000794176],"genre_scores_gemma":[0.9931376,0.001668204,0.00421742,0.0003808528,0.0001772512,0.00002741719,0.0002996001,0.00004483752,0.00004680843],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01634206,"threshold_uncertainty_score":0.999994,"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."}}