{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.001007868,0.0002782253,0.0004382317,0.0002115914,0.00005761365,0.00004004722,0.0001418892,0.0002788753,0.00002016599],"category_scores_gemma":[0.0009350019,0.0002957728,0.00008804006,0.0008234827,0.00006745678,0.000009508018,0.000398096,0.000370616,0.000003734898],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005110064,"about_ca_system_score_gemma":0.0002351109,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005492606,"about_ca_topic_score_gemma":0.0005658327,"domain_scores_codex":[0.997263,0.0002709031,0.0007063566,0.0009178002,0.0001839688,0.0006579396],"domain_scores_gemma":[0.9989402,0.00006499851,0.0001401781,0.0004528542,0.00005742917,0.0003443009],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"case_report","study_design_scores_codex":[0.0001468627,0.0001304719,0.6662232,0.00005187909,0.00002425455,0.3021797,0.0002272298,0.0008356795,0.02734782,0.000009186594,0.001033858,0.001789887],"study_design_scores_gemma":[0.01074534,0.0006751617,0.1132453,0.00007394431,0.0001762676,0.8281295,0.0005168415,0.001234296,0.03705231,0.0005198036,0.00466099,0.002970193],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9961469,0.002241947,0.0002246636,0.0004759069,0.00008786689,0.0005041406,0.00003867509,0.00001417696,0.0002657071],"genre_scores_gemma":[0.9963844,0.0009370738,0.0009603965,0.00094672,0.0004499427,0.00004891436,0.0001810598,0.00004043858,0.00005099847],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5529779,"threshold_uncertainty_score":0.9999495,"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."}}