{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000237908,0.002000366,0.0006261011,0.001192558,0.0007344742,0.0005507381,0.0006117092,0.003222596,0.004663022],"category_scores_gemma":[0.001991485,0.0004149826,0.0007451689,0.0007527561,0.001029412,0.0004314586,0.0006705668,0.00110595,0.001289186],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003803834,"about_ca_system_score_gemma":0.0003131489,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0029797,"about_ca_topic_score_gemma":0.002591156,"domain_scores_codex":[0.9995834,0.00005830195,0.00005136064,0.0001300594,0.00007056676,0.0001063325],"domain_scores_gemma":[0.9991448,0.0003312999,0.0002243073,0.00003877351,0.00007107558,0.0001897693],"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":[0.0003469975,0.00006006273,0.0164411,0.00006753627,0.00007161115,0.9501335,0.0003881136,0.0003624119,0.02731336,0.0005635217,0.0008090108,0.003442726],"study_design_scores_gemma":[0.00006245633,0.000290963,0.0500539,0.00005322229,0.0001536025,0.9363905,0.0003920133,0.001229228,0.007541478,0.0004856337,0.003304151,0.00004287749],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9880825,0.0009202587,0.002987373,0.001663537,0.0001941669,0.00008078572,0.0007621548,0.0001355382,0.005173707],"genre_scores_gemma":[0.9963067,0.0002258694,0.001306606,0.000387978,0.00008776641,0.00001941567,0.0002265515,0.00002767556,0.001411487],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004663022,"threshold_uncertainty_score":0.01559937,"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."}}