{"id":"W2182501323","doi":"","title":"Report of a patient with limb-girdle muscular dystrophy, ptosis and ophthalmoparesis caused by plectinopathy.","year":2015,"lang":"en","type":"article","venue":"PubMed","topic":"Skin and Cellular Biology Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":20,"is_retracted":false,"has_abstract":true,"ca_institutions":"Women's College Hospital; University of Toronto","funders":"","keywords":"Limb-girdle muscular dystrophy; Medicine; Muscular dystrophy; Ptosis; Plectin; Ophthalmoparesis; Variable Expression; Proximal muscle weakness; Exome sequencing; Phenotype; Dermatology; Pathology; Genetics; Muscle biopsy; Surgery; Internal medicine; Biology; Gene; Biopsy","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":[0.0002988342,0.000137017,0.0001810083,0.00004366796,0.0000397999,0.00001437797,0.0001151309,0.0001288815,0.000003434642],"category_scores_gemma":[0.0001512638,0.0001080577,0.00004804098,0.0001101534,0.0001602857,0.00000291427,0.0001238734,0.00007458588,8.718644e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001510714,"about_ca_system_score_gemma":0.0000668967,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00007375282,"about_ca_topic_score_gemma":0.000008022368,"domain_scores_codex":[0.9988018,0.00009550844,0.0001984785,0.0003723298,0.0002064907,0.0003253371],"domain_scores_gemma":[0.9991523,0.000009482898,0.0001014815,0.000360319,0.0001497684,0.0002266236],"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":[0.00244279,0.001055421,0.3863252,0.0001598505,0.0009956781,0.00243654,0.0003241583,0.00002675665,0.5506024,0.00001883622,0.01238462,0.04322772],"study_design_scores_gemma":[0.001973258,0.002060474,0.04325613,0.0000108649,0.00007543402,0.002639707,0.0003479242,0.00001023396,0.9260007,0.00002270659,0.02317628,0.0004262533],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9963955,0.001974613,0.0001022206,0.00006140032,0.00004744284,0.0004267518,0.000019842,0.000008134118,0.0009640608],"genre_scores_gemma":[0.9985775,0.00006894915,0.0001491571,0.00002338118,0.00004355288,0.0004380407,0.0001156326,0.00002022625,0.0005635239],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3753983,"threshold_uncertainty_score":0.4406466,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01501098134238892,"score_gpt":0.2240424370930693,"score_spread":0.2090314557506804,"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."}}