{"id":"W1185693396","doi":"10.1159/000438920","title":"Pachyonychia Congenita (K16) with Unusual Features and Good Response to Acitretin","year":2015,"lang":"en","type":"article","venue":"Case Reports in Dermatology","topic":"Skin and Cellular Biology Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":9,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre","funders":"","keywords":"Palmoplantar keratoderma; Acitretin; Exome sequencing; Epidermolytic hyperkeratosis; Dermatology; Hyperkeratosis; Medicine; Missense mutation; Acanthosis; Genodermatosis; Keratoderma; Pathology; Genetics; Mutation; Biology; Gene","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":[],"consensus_categories":[],"category_scores_codex":[0.0005764334,0.0001818945,0.0002455192,0.0001323863,0.00005329408,0.00002021211,0.00007212142,0.0003154769,0.000006648053],"category_scores_gemma":[0.0005742427,0.0001507703,0.00002970879,0.0001481864,0.000268818,0.000003256465,0.0002002573,0.0001874043,0.000005467503],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001732005,"about_ca_system_score_gemma":0.0002684435,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003703979,"about_ca_topic_score_gemma":0.0002874949,"domain_scores_codex":[0.9983454,0.0003741572,0.0002666243,0.0005218567,0.0001089596,0.0003830442],"domain_scores_gemma":[0.9990031,0.00005012917,0.00007206806,0.0004736334,0.0001111179,0.0002899827],"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":[0.004453242,0.0001415669,0.1768853,0.00002942746,0.0001221714,0.7093773,0.0005498877,0.00001387201,0.0997076,0.000106403,0.007041889,0.001571394],"study_design_scores_gemma":[0.0008591289,0.0005044914,0.003593691,0.00001068899,0.00001387878,0.8916957,0.0007043932,0.00000549023,0.08161922,0.000085516,0.02066148,0.0002462663],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9951206,0.001974587,0.00008719078,0.0009836148,0.0001161765,0.0002756078,0.000005943493,0.00001363077,0.001422653],"genre_scores_gemma":[0.9982305,0.00002394301,0.0005467009,0.0002422247,0.00004756243,0.0000510435,0.00004829354,0.00002199898,0.000787738],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1823185,"threshold_uncertainty_score":0.6148235,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01331661303879295,"score_gpt":0.2831017469406957,"score_spread":0.2697851339019028,"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."}}