{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004123735,0.00010754,0.0001408993,0.00004494445,0.00003822061,0.00001542121,0.0001778381,0.0001378652,0.00002137779],"category_scores_gemma":[0.0002023254,0.00008868191,0.00005333405,0.0001227884,0.00009919065,0.000003656424,0.0001006084,0.00009767272,0.000004838185],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001020825,"about_ca_system_score_gemma":0.00006666983,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000256566,"about_ca_topic_score_gemma":0.00004440006,"domain_scores_codex":[0.9989833,0.00008265481,0.0001621499,0.0002704105,0.00015255,0.0003489088],"domain_scores_gemma":[0.9994107,0.00003321523,0.00009859318,0.0002510172,0.0001338236,0.00007263839],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006088852,0.0008301092,0.6116195,0.00007393346,0.001336303,0.0000872486,0.0001346668,0.00005354469,0.3757461,0.0007916369,0.0008713492,0.007846735],"study_design_scores_gemma":[0.003387999,0.0003146834,0.8634325,0.00001347161,0.00007477335,0.0001870331,0.0001834106,0.0002538106,0.1297883,0.00005837858,0.001940012,0.0003656961],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9944776,0.0001217944,0.0002947305,0.00006519028,0.00008259596,0.0005475232,0.0000507941,0.0000095209,0.004350201],"genre_scores_gemma":[0.9952777,0.00001039628,0.0001519643,0.00003808866,0.00004152649,0.000165407,0.0002725335,0.00001787804,0.004024515],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2518129,"threshold_uncertainty_score":0.3616343,"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."}}