{"id":"W3016847944","doi":"10.1016/j.nmd.2020.03.010","title":"Collagen VI-related limb-girdle syndrome caused by frequent mutation in COL6A3 gene with conflicting reports of pathogenicity","year":2020,"lang":"en","type":"article","venue":"Neuromuscular Disorders","topic":"Muscle Physiology and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":6,"is_retracted":false,"has_abstract":false,"ca_institutions":"Centre hospitalier universitaire de Québec; Université Laval","funders":"National Human Genome Research Institute; European Regional Development Fund","keywords":"Phenotype; Mutation; Collagen VI; Genetics; Myopathy; Gene; Limb-girdle muscular dystrophy; Compound heterozygosity; Gene mutation; Medicine; Biology; Bioinformatics","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":[0.000132191,0.0002243967,0.0002895813,0.00004649427,0.00007299863,0.000009385034,0.0001401557,0.0001895165,0.00003027582],"category_scores_gemma":[0.0001382841,0.0002279324,0.0001205602,0.0002969483,0.0001199066,0.000009073458,0.00005381279,0.0001178909,0.000002507982],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000009224046,"about_ca_system_score_gemma":0.00009081003,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001214357,"about_ca_topic_score_gemma":0.0001795224,"domain_scores_codex":[0.9983621,0.000155277,0.0004314264,0.0005897416,0.0001829956,0.0002784059],"domain_scores_gemma":[0.9992427,0.00001633252,0.0002537955,0.0003173556,0.00005700975,0.000112771],"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":[0.0002634163,0.000186145,0.01731008,0.00006221867,0.0001138347,0.0001188787,0.0003704118,0.005428449,0.9758186,0.000008456291,0.0000642272,0.0002552377],"study_design_scores_gemma":[0.01071011,0.009727025,0.3348629,0.00009115037,0.000338411,0.0002563448,0.002054281,0.003302492,0.6332628,0.0004100561,0.002972913,0.002011457],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9978861,0.0006884664,0.0002762316,0.0002320302,0.00004999309,0.0005181915,0.00001610008,0.00002653385,0.0003063832],"genre_scores_gemma":[0.9989119,0.0001181925,0.00006954908,0.0004332079,0.000007553027,0.00004321639,0.0003568953,0.00004130044,0.00001823082],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3425559,"threshold_uncertainty_score":0.9294815,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00528814497276504,"score_gpt":0.2095343491548623,"score_spread":0.2042462041820972,"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."}}