{"id":"W4408318175","doi":"10.1055/s-0044-1801421","title":"Biallelische Varianten in einem DST-b-spezifischen Exon verursachen eine schwere angeborene Myopathie mit Arthrogryposis, muskulärer Hypotonie und dilatativer Kardiomyopathie","year":2025,"lang":"de","type":"article","venue":"Nervenheilkunde","topic":"Neurogenetic and Muscular Disorders Research","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"Ottawa Hospital; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"","keywords":"Medicine; Gynecology","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","research_integrity","insufficient_payload"],"consensus_categories":["metaepi_narrow","insufficient_payload"],"category_scores_codex":[0.002067788,0.001370989,0.002097049,0.001558011,0.0004674561,0.0003344522,0.001262562,0.0009790062,0.001032711],"category_scores_gemma":[0.001023827,0.001349956,0.001001391,0.003051311,0.0009574735,0.0003771223,0.001099963,0.002523487,0.00115473],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005358194,"about_ca_system_score_gemma":0.001629283,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001681172,"about_ca_topic_score_gemma":0.001004615,"domain_scores_codex":[0.9902811,0.001418235,0.001827045,0.002326404,0.00176898,0.00237823],"domain_scores_gemma":[0.9952533,0.0006337988,0.0004077117,0.002325893,0.0005478267,0.0008314466],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.009525144,0.01530741,0.2538156,0.009317419,0.03768867,0.01523709,0.006114501,0.001143342,0.112838,0.01635875,0.07877813,0.443876],"study_design_scores_gemma":[0.03768577,0.00295267,0.3462935,0.007205921,0.01399843,0.00004238659,0.001214083,0.003726571,0.02519173,0.002857322,0.5553654,0.003466217],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"empirical","genre_scores_codex":[0.4320194,0.5326791,0.003161496,0.009788982,0.003445151,0.004954253,0.0003489019,0.0003037003,0.01329899],"genre_scores_gemma":[0.9551915,0.03082482,0.002860044,0.00258987,0.001698634,0.0006341442,0.0007633988,0.0003915659,0.005046031],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.5231721,"threshold_uncertainty_score":0.9999041,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01940102226144439,"score_gpt":0.3171323720379025,"score_spread":0.2977313497764581,"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."}}