{"id":"W4282567167","doi":"10.1242/dmm.049342","title":"Natural history of a mouse model of X-linked myotubular myopathy","year":2022,"lang":"en","type":"article","venue":"Disease Models & Mechanisms","topic":"Muscle Physiology and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":19,"is_retracted":false,"has_abstract":true,"ca_institutions":"Canada Research Chairs; Hospital for Sick Children; University of Toronto","funders":"National Institute of Arthritis and Musculoskeletal and Skin Diseases; Natural Sciences and Engineering Research Council of Canada; Office of Extramural Research, National Institutes of Health; Canadian Institutes of Health Research; Myotubular Trust","keywords":"Biology; Phenotype; Transcriptome; Disease; Genetics; Myocyte; Gene; Knockout mouse; Skeletal muscle; Bioinformatics; Gene expression; Pathology; Endocrinology; 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000383819,0.0006030122,0.0004560113,0.00118872,0.00041781,0.0004766451,0.000373801,0.0007982361,0.00191602],"category_scores_gemma":[0.0002705844,0.0002684995,0.000358362,0.0003465632,0.0005838989,0.000533818,0.0004227448,0.001433947,0.0005700217],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005019074,"about_ca_system_score_gemma":0.0002449588,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003808592,"about_ca_topic_score_gemma":0.0007632774,"domain_scores_codex":[0.9996698,0.00004935051,0.00002802548,0.0001164529,0.00008021432,0.00005621592],"domain_scores_gemma":[0.9994547,0.00005428263,0.0001787952,0.00005240066,0.00005475567,0.0002050043],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0009351008,0.0005805444,0.004271884,0.00006603816,0.00002455873,0.0004958204,0.0001142641,0.0001598459,0.9893518,0.0004089924,0.0003114697,0.003279609],"study_design_scores_gemma":[0.0003248389,0.01237604,0.1362642,0.0001929,0.0002642067,0.00854589,0.0006228077,0.003825386,0.8127551,0.001558993,0.02314238,0.0001272148],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9927085,0.001076729,0.002540005,0.000175237,0.00004909044,0.0001048978,0.001743363,0.000158507,0.001443803],"genre_scores_gemma":[0.9779715,0.001388274,0.004092017,0.00034933,0.00002308183,0.0005789969,0.003720997,0.0001723979,0.0117033],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00191602,"threshold_uncertainty_score":0.006409705,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01459923055799332,"score_gpt":0.2084070055127868,"score_spread":0.1938077749547935,"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."}}