{"id":"W3016506147","doi":"10.1155/2020/4206348","title":"Severe Generalized Epidermolysis Bullosa Simplex in Two Hong Kong Children due to <i>De Novo</i> Variants in <i>KRT14</i> and <i>KRT5</i>","year":2020,"lang":"en","type":"article","venue":"Case Reports in Pediatrics","topic":"Skin and Cellular Biology Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":7,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Children's Hospital; University of Calgary","funders":"","keywords":"Genodermatosis; Epidermolysis bullosa simplex; Medicine; Epidermolysis bullosa; Gene; Dermatology; Genetics; Biology","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002676315,0.001272,0.0007474173,0.0005860584,0.001423729,0.0007013124,0.0004366396,0.001270448,0.001158735],"category_scores_gemma":[0.0009639523,0.0009661539,0.000808955,0.0005548032,0.001411708,0.0006846064,0.001319829,0.001231976,0.0001897183],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001357128,"about_ca_system_score_gemma":0.001012166,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.025621,"about_ca_topic_score_gemma":0.02297483,"domain_scores_codex":[0.9995173,0.00005033255,0.00006668839,0.0001445689,0.00006759416,0.0001534786],"domain_scores_gemma":[0.9992872,0.00008132548,0.0002054969,0.00004067878,0.00005430802,0.0003310404],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.00008156766,0.00009626706,0.1481746,0.00007210318,0.00006026388,0.8413108,0.003424693,0.0001478295,0.003766198,0.000211637,0.0002821306,0.002371977],"study_design_scores_gemma":[0.00005957354,0.0004208993,0.2401814,0.00004533616,0.00008510183,0.7538089,0.002212799,0.0002689502,0.001346969,0.0001237162,0.001387472,0.00005900213],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9985899,0.0002006543,0.0001917734,0.0001547124,0.00003060557,0.00003476831,0.00005190258,0.00001271096,0.0007328948],"genre_scores_gemma":[0.9987692,0.0001587238,0.0002847709,0.0001865605,0.00002446053,0.00001172168,0.00005180256,0.000007298218,0.0005053648],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.025621,"threshold_uncertainty_score":0.05094373,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01310955835699595,"score_gpt":0.2781705884357729,"score_spread":0.265061030078777,"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."}}