{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002079638,0.0012245,0.0006654705,0.0008143236,0.0007825449,0.0004811814,0.0004379481,0.001633084,0.001328409],"category_scores_gemma":[0.001444024,0.0003535028,0.0004129813,0.0007632155,0.0006886146,0.0004264202,0.0005564953,0.001081995,0.0004731374],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004361835,"about_ca_system_score_gemma":0.0003676288,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001219431,"about_ca_topic_score_gemma":0.001987949,"domain_scores_codex":[0.9996632,0.00004041177,0.00003775199,0.0001082096,0.00006344012,0.00008697689],"domain_scores_gemma":[0.9991955,0.0001665121,0.0002191357,0.00009403003,0.00004893674,0.0002758057],"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":[0.0001099975,0.00003542116,0.01373911,0.00004545071,0.00001821806,0.9799423,0.00009326325,0.0001161579,0.003199348,0.0001182473,0.0002522845,0.002330225],"study_design_scores_gemma":[0.00001915716,0.00008725497,0.01494886,0.000007806368,0.00001019001,0.9836723,0.0000389351,0.0001716296,0.0005389048,0.00009126287,0.0004065296,0.00000723188],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.989349,0.002177212,0.001397025,0.0008072786,0.00009937591,0.00009562021,0.0002312063,0.0001589908,0.005684214],"genre_scores_gemma":[0.99763,0.0004330664,0.0005996743,0.0001383204,0.0001056993,0.00001959878,0.0001176912,0.00002717046,0.0009287486],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001633084,"threshold_uncertainty_score":0.004443944,"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."}}