{"id":"W4408955746","doi":"10.1155/humu/9301465","title":"Variants in CAPN3 Causing Autosomal Dominant Limb–Girdle Muscular Dystrophy Combined With Calpain‐3 Deficiency","year":2025,"lang":"en","type":"article","venue":"Human Mutation","topic":"Calpain Protease Function and Regulation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster University Medical Centre","funders":"","keywords":"Limb-girdle muscular dystrophy; Biology; Muscular dystrophy; Genetics; Calpain; Pectoral girdle; Anatomy; Mutation; Gene","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":[0.0003232303,0.002380176,0.000588126,0.001030743,0.001021824,0.000404763,0.0007227971,0.002120706,0.003160859],"category_scores_gemma":[0.001298824,0.0004890183,0.000747016,0.0008744469,0.0009066188,0.0002632825,0.0009952219,0.0008969979,0.00077916],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00056928,"about_ca_system_score_gemma":0.0004206322,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002317811,"about_ca_topic_score_gemma":0.002684337,"domain_scores_codex":[0.9994938,0.00006198957,0.00006413838,0.0001365656,0.0001345755,0.0001089699],"domain_scores_gemma":[0.9992073,0.0002387373,0.00020452,0.00005100166,0.00007991667,0.0002185279],"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":[0.0004065117,0.0001341589,0.04747736,0.00008901814,0.000103672,0.9041422,0.0004988263,0.0002492814,0.04300731,0.000180433,0.0005319015,0.00317929],"study_design_scores_gemma":[0.0001263353,0.0003656648,0.09127697,0.0000381776,0.000135541,0.8933237,0.000175069,0.0007736776,0.0119188,0.0001709998,0.00164745,0.00004766292],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9956447,0.0003790169,0.001190907,0.000173408,0.00007524598,0.00005477238,0.0002091373,0.00006655454,0.002206259],"genre_scores_gemma":[0.9986419,0.0000683676,0.0005682064,0.0001184019,0.00004719022,0.0000112117,0.0001183408,0.00001669655,0.0004097194],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003160859,"threshold_uncertainty_score":0.01057416,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005927252136602992,"score_gpt":0.2368189093099998,"score_spread":0.2308916571733968,"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."}}