{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00009894518,0.0002280034,0.0003518754,0.00006999932,0.00008779106,0.00002359761,0.0001710727,0.0002808061,0.0001936948],"category_scores_gemma":[0.0001222429,0.0002320091,0.00005573381,0.0001739721,0.0002438779,0.000007907219,0.0001974929,0.0002071116,0.00003378738],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002842,"about_ca_system_score_gemma":0.00007556524,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00009076914,"about_ca_topic_score_gemma":0.000101693,"domain_scores_codex":[0.99817,0.0003522912,0.0003933328,0.0005614235,0.00009804304,0.0004248974],"domain_scores_gemma":[0.9995161,0.00004534712,0.00006445091,0.0001964251,0.00002607169,0.0001516113],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0001639684,0.0001652483,0.0094587,0.0000162621,0.00003584963,0.0005798033,0.0007310063,0.000009985397,0.983328,0.0001150932,0.00484786,0.0005482004],"study_design_scores_gemma":[0.002918954,0.0002671338,0.001790515,0.000008636887,0.000007124341,0.000774487,0.001421844,0.0008688203,0.9870505,0.00003887853,0.004501563,0.0003515226],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9925072,0.004380533,0.0001076922,0.002009991,0.00005435609,0.0003408683,0.000036594,0.00001246678,0.0005503018],"genre_scores_gemma":[0.9979992,0.0001476441,0.0002156121,0.0007440381,0.0000421107,0.0001080745,0.0006137078,0.00002549679,0.0001041537],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007668186,"threshold_uncertainty_score":0.9461057,"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."}}