{"id":"W3024330950","doi":"","title":"Pachyonychia Congenita Associated with a Novel Variant of KRT17 Presenting Unusual Oral Manifestations.","year":2019,"lang":"en","type":"article","venue":"PubMed","topic":"Skin and Cellular Biology Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; McGill University; Montreal Children's Hospital","funders":"","keywords":"Missense mutation; Alveolar crest; Medicine; Dermatology; Genetics; Mutation; Gene; Dentistry; Biology; Dental alveolus","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":[0.0001017101,0.001352158,0.0005776352,0.001295031,0.0004737974,0.0007353289,0.0007054264,0.001619006,0.005366639],"category_scores_gemma":[0.001213333,0.000456895,0.0003429202,0.001325135,0.0007254065,0.0005663138,0.0005751525,0.0009638792,0.001298127],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003322721,"about_ca_system_score_gemma":0.0002928126,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008241188,"about_ca_topic_score_gemma":0.001119199,"domain_scores_codex":[0.9998305,0.00001775512,0.0000156752,0.00004017255,0.00003494051,0.0000609001],"domain_scores_gemma":[0.9993918,0.0001972787,0.0001980689,0.00006282595,0.00002269814,0.0001272221],"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":[0.00005236622,0.000009087916,0.002776706,0.00003134815,0.00001121782,0.9899737,0.00004800961,0.00004600736,0.004823425,0.0002611919,0.000493423,0.001473601],"study_design_scores_gemma":[0.00001320333,0.00002064826,0.007458718,0.00001307188,0.00001630637,0.9902117,0.00005418718,0.0001037907,0.0008822184,0.0001871524,0.001032747,0.000006399901],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9780384,0.003110124,0.002091356,0.001305428,0.0002329888,0.00009474555,0.001165332,0.0002614173,0.01370013],"genre_scores_gemma":[0.9924263,0.001140642,0.001476182,0.0002089899,0.000269505,0.00003244426,0.0005350799,0.00007115054,0.003839716],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005366639,"threshold_uncertainty_score":0.01795322,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01901590499619694,"score_gpt":0.2394377417633451,"score_spread":0.2204218367671482,"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."}}