{"id":"W2964133504","doi":"10.1016/j.nmd.2021.08.003","title":"X-linked myotubular myopathy","year":2021,"lang":"en","type":"review","venue":"Neuromuscular Disorders","topic":"Cellular transport and secretion","field":"Biochemistry, Genetics and Molecular Biology","cited_by":84,"is_retracted":false,"has_abstract":false,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"National Institutes of Health; Astellas Pharma; Myotubular Trust; Canadian Institutes of Health Research; Genome Canada; Muscular Dystrophy Association; Joshua Frase Foundation","keywords":"Myocyte; Disease; Congenital myopathy; Muscle biopsy; Muscle weakness; Medicine; Myopathy; Biology; Pathology; Biopsy; Internal medicine","routes":{"ca_aff":true,"ca_fund":true,"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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0001757904,0.0006324393,0.001121553,0.0001157428,0.0001164194,0.00005614286,0.0004539634,0.0007162441,0.0001235008],"category_scores_gemma":[0.00006058918,0.0006193573,0.001732227,0.0002942191,0.00009215043,0.000003640024,0.0001282305,0.0004118893,0.00006605907],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001698767,"about_ca_system_score_gemma":0.0002733947,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001049444,"about_ca_topic_score_gemma":0.0000397242,"domain_scores_codex":[0.9973674,0.0002804257,0.0005451696,0.001062771,0.0003036269,0.0004405381],"domain_scores_gemma":[0.9984856,0.00001289686,0.0001942689,0.001096128,0.00005887145,0.0001522912],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.000009674564,0.000223942,0.00003340646,0.00592949,0.0005472718,0.000113644,0.00002689124,0.00001286418,0.001811677,0.0001076521,0.0005854286,0.9905981],"study_design_scores_gemma":[0.000246714,0.0001083762,0.00001237989,0.0007957305,0.0006791523,0.00003215448,0.00001071171,0.000003091214,0.00001858778,0.00001160216,0.997464,0.0006174966],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0001945138,0.9953336,0.002370052,0.00002165592,0.0005776543,0.0006252755,0.00003924162,0.00004319818,0.0007948549],"genre_scores_gemma":[0.00006045587,0.9762146,0.00007794137,0.00008578182,0.0003173747,0.000104508,0.02229477,0.000176559,0.0006680238],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9968786,"threshold_uncertainty_score":0.9996258,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0170711398873677,"score_gpt":0.2681177848462057,"score_spread":0.251046644958838,"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."}}