{"id":"W6980115910","doi":"","title":"Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 10 (LGMD,10), Caused by a Novel Homozygous Variant in the TTN Gene","year":2025,"lang":"en","type":"article","venue":"DOAJ (DOAJ: Directory of Open Access Journals)","topic":"History and advancements in chemistry","field":"Chemistry","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Canadian Paediatric Society","funders":"","keywords":"Muscular dystrophy; Autosomal recessive inheritance; Genetic counseling; Disease; Gene; Weakness; Myopathy","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":[0.0001489408,0.001454157,0.0007657523,0.000739906,0.0007300416,0.000500676,0.0007210139,0.001644841,0.001744343],"category_scores_gemma":[0.0008800974,0.0003856498,0.0005710546,0.0008979984,0.0008950206,0.0004617746,0.0005880744,0.0008363932,0.0005025539],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005192712,"about_ca_system_score_gemma":0.0005203146,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003059124,"about_ca_topic_score_gemma":0.004381201,"domain_scores_codex":[0.9997032,0.00002833783,0.00003350077,0.000106707,0.00005744514,0.00007071386],"domain_scores_gemma":[0.9996077,0.0001242581,0.000137869,0.00001219527,0.00002697658,0.00009099395],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.00006274694,0.00003782395,0.009196261,0.00007659273,0.00001925463,0.9773126,0.0001532769,0.00008674393,0.01056846,0.000188606,0.0004599501,0.001837637],"study_design_scores_gemma":[0.0000363091,0.0001113957,0.01943524,0.00003543575,0.00003732737,0.9763415,0.0001455168,0.0004052422,0.001849331,0.0001149972,0.001472608,0.00001506087],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9886445,0.003992721,0.002276607,0.0009818135,0.0002963763,0.00006298965,0.0004226811,0.0001383743,0.003184018],"genre_scores_gemma":[0.9947982,0.001143363,0.001186501,0.000400977,0.0002138462,0.00002059164,0.0002209667,0.00002440081,0.001991228],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003059124,"threshold_uncertainty_score":0.006082654,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1100016805579057,"score_gpt":0.477525871013571,"score_spread":0.3675241904556653,"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."}}