{"id":"W3083660315","doi":"10.1111/exd.14189","title":"Severe epidermolysis bullosa simplex phenotype caused by codominant mutations p.Ile377Thr in keratin 14 and p.Gly138Glu in keratin 5","year":2020,"lang":"en","type":"article","venue":"Experimental Dermatology","topic":"Skin and Cellular Biology Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine; Centre Intégré Universitaire de Santé et de Services Sociaux du Saguenay–Lac-Saint-Jean; Université du Québec à Chicoutimi","funders":"Fondation du Grand défi Pierre Lavoie; Rare Disease Foundation","keywords":"Epidermolysis bullosa simplex; Keratin 5; Keratin 14; Epidermolysis bullosa; Missense mutation; Keratin; Keratin 6A; Genodermatosis; Phenotype; Epidermolytic hyperkeratosis; Biology; Genetics; Mutation; Population; Hyperkeratosis; Keratin 8; Dermatology; Pathology; Gene; Medicine; Intermediate filament; Cell; Cytoskeleton","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"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":[0.0001139442,0.00188714,0.0005965809,0.0009573833,0.001212342,0.0005482574,0.0005164079,0.001168843,0.002653063],"category_scores_gemma":[0.000427381,0.0002562797,0.0006277089,0.0007264262,0.0009383426,0.0002079152,0.0005300647,0.0006853241,0.0003843029],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001291146,"about_ca_system_score_gemma":0.00160129,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.07533412,"about_ca_topic_score_gemma":0.07083572,"domain_scores_codex":[0.9997455,0.00001335922,0.00001825453,0.00006894142,0.00008219071,0.00007166271],"domain_scores_gemma":[0.9997562,0.0000401284,0.00005005394,0.000009965475,0.00003470099,0.0001090699],"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":[0.0001950951,0.00005096372,0.01919561,0.0001516284,0.00008710732,0.8932683,0.0005570442,0.0002150758,0.08008541,0.000417531,0.0006921765,0.005083945],"study_design_scores_gemma":[0.00006461001,0.000126486,0.06823203,0.00005562936,0.0001588879,0.9115576,0.0004458911,0.0007055706,0.01465617,0.0002159815,0.003726806,0.00005428404],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9898533,0.001719128,0.001173084,0.000440232,0.0001163242,0.00007169326,0.0005295791,0.0001774312,0.005919274],"genre_scores_gemma":[0.9969403,0.0004335358,0.000641532,0.0001527287,0.00003631685,0.000006030573,0.0001360299,0.00001831319,0.001635138],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.07533412,"threshold_uncertainty_score":0.1497913,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01424532136462059,"score_gpt":0.2844555153253393,"score_spread":0.2702101939607187,"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."}}