{"id":"W3197532661","doi":"10.5812/gct.115993","title":"Role of DYSF Genetic Variant in Limb Girdle Muscular Dystrophy: A Case Report","year":2021,"lang":"en","type":"article","venue":"Gene Cell and Tissue","topic":"Muscle Physiology and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Manitoba","funders":"","keywords":"Proband; Limb-girdle muscular dystrophy; Muscular dystrophy; Exome sequencing; Genetics; Sanger sequencing; Genetic counseling; Medicine; Biology; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00006247027,0.0001077833,0.0001557003,0.00002503231,0.00003786261,0.000005444526,0.00005197401,0.0001271171,0.00005246815],"category_scores_gemma":[0.00002080356,0.0001097013,0.00004426764,0.00006925593,0.00005451918,0.000001719844,0.00009557916,0.00005543886,0.000003361953],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000003479676,"about_ca_system_score_gemma":0.00008346941,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002087858,"about_ca_topic_score_gemma":0.0001278626,"domain_scores_codex":[0.9991956,0.00005368963,0.0002010073,0.0003355419,0.00004709144,0.000167029],"domain_scores_gemma":[0.9995154,0.000005650932,0.00005860957,0.000315836,0.00004430248,0.00006018025],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00004125125,0.00009599865,0.0004996312,0.00004228568,0.00002144207,0.01175725,0.00006002236,0.0002210683,0.9845684,0.0000142987,0.00004937018,0.002628952],"study_design_scores_gemma":[0.0006591285,0.0002778072,0.005176316,0.000007106538,0.00002894053,0.007478579,0.000233844,0.0000794469,0.9764812,0.0003809828,0.00900887,0.0001877969],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9872363,0.0111965,0.0002406045,0.00002361458,0.0000641501,0.00008400664,0.00001104162,0.000003386228,0.001140454],"genre_scores_gemma":[0.997087,0.0005528121,0.001655768,0.00005509807,0.00007167786,0.00001230788,0.00008730724,0.00001166738,0.0004663406],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01064369,"threshold_uncertainty_score":0.4473491,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.003513920784202453,"score_gpt":0.2068447053617554,"score_spread":0.203330784577553,"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."}}