{"id":"W2085929759","doi":"10.1111/j.1365-2133.2009.09626.x","title":"Keratin mutations in patients with epidermolysis bullosa simplex: correlations between phenotype severity and disturbance of intermediate filament molecular structure","year":2009,"lang":"en","type":"article","venue":"British Journal of Dermatology","topic":"Skin and Cellular Biology Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":25,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Université Laval","keywords":"Epidermolysis bullosa simplex; Keratin 5; Keratin 14; Intermediate filament; Keratin; Epidermolysis bullosa; Genetics; Biology; Mutation; Gene; Molecular biology; Cytoskeleton; Cell; Transgene; Genetically modified mouse","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00007314453,0.00009463324,0.0002781337,0.00007249942,0.00004755796,0.00001310536,0.0001232223,0.000134841,0.00001293844],"category_scores_gemma":[0.0001352716,0.00009393281,0.00004795463,0.0001002658,0.000167936,0.000008217165,0.00003499489,0.0002045696,2.480013e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001062332,"about_ca_system_score_gemma":0.0000634893,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000009924777,"about_ca_topic_score_gemma":0.00002496588,"domain_scores_codex":[0.9990149,0.0001690066,0.0003815751,0.0001501002,0.0001143243,0.0001700883],"domain_scores_gemma":[0.9993911,0.0000315781,0.000224688,0.0001013816,0.0001821328,0.00006907443],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000299411,0.0002578555,0.9523792,0.00002976505,0.000232778,0.001501206,0.0001220709,0.00009843702,0.01256532,0.00006124676,0.0002987625,0.03215398],"study_design_scores_gemma":[0.001821216,0.0003640882,0.9788746,0.00005569943,0.00004417154,0.003581292,0.0000381269,0.00002302573,0.01448733,0.0005189129,0.00006719083,0.0001243463],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9971531,0.0009858604,0.001447423,0.0001824092,0.00002833244,0.0001127668,0.00006476426,0.000001377213,0.00002394963],"genre_scores_gemma":[0.9989941,0.00008764311,0.0006400855,0.0000437946,0.00002347808,0.000001254785,0.0001969272,0.0000065854,0.000006100069],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.03202963,"threshold_uncertainty_score":0.3830469,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004352177017664982,"score_gpt":0.2319446017351274,"score_spread":0.2275924247174624,"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."}}