{"id":"W2164015898","doi":"10.1186/s40478-015-0224-0","title":"Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy","year":2015,"lang":"en","type":"article","venue":"Acta Neuropathologica Communications","topic":"Heat shock proteins research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":61,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"Università degli Studi di Roma Tor Vergata; Hospital for Sick Children; University of Toronto; Ministero della Salute","keywords":"Missense mutation; Genetics; Myopathy; Neurology; Mutation; Biology; Medicine; Neuroscience; Gene","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":[],"consensus_categories":[],"category_scores_codex":[0.0005453179,0.0001730764,0.0001843283,0.00005364438,0.0003931281,0.00003705728,0.001228013,0.0001163333,0.000004157899],"category_scores_gemma":[0.001461732,0.0001323817,0.00008275486,0.0002706195,0.001152318,0.000009512364,0.001799055,0.0003160922,0.000006745705],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000183867,"about_ca_system_score_gemma":0.000156226,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000344321,"about_ca_topic_score_gemma":0.00007536594,"domain_scores_codex":[0.9980506,0.0008034965,0.0003362971,0.0003236981,0.0002184473,0.0002674328],"domain_scores_gemma":[0.9965634,0.0001648493,0.0001415752,0.002699871,0.0002628069,0.0001675364],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00004446346,0.0002946309,0.00624607,0.00001099218,0.0000199447,0.00001396583,0.0003386659,0.00001377564,0.9914069,0.0007796375,0.0006675959,0.0001633189],"study_design_scores_gemma":[0.006558888,0.002857175,0.3742127,0.0001611555,0.0002618292,0.005638896,0.00332407,0.001333891,0.1670311,0.00546402,0.4311675,0.0019888],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9905021,0.0003500115,0.0007457153,0.005944329,0.00004190154,0.0005242868,0.0004539907,0.00002319879,0.00141451],"genre_scores_gemma":[0.9949812,0.0002534979,0.003915876,0.0003363364,0.00002164981,0.0000840454,0.0002045586,0.00002587738,0.0001769797],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8243758,"threshold_uncertainty_score":0.539837,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.07748979142791762,"score_gpt":0.3218062224632757,"score_spread":0.2443164310353581,"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."}}