{"id":"W2193100127","doi":"10.1001/jamadermatol.2015.2810","title":"Identification of a<i>CAST</i>Mutation in a Cohort Previously Misdiagnosed as Having Autosomal Recessive Pachyonychia Congenita","year":2015,"lang":"en","type":"article","venue":"JAMA Dermatology","topic":"Skin and Cellular Biology Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; University of Calgary","funders":"","keywords":"Medicine; Dermatology; Genodermatosis; Genetics; Identification (biology); Cohort; Pathology; 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":[0.0004822659,0.0001404067,0.0002555846,0.0001257715,0.0000352758,0.00002144437,0.0002537683,0.0003992141,0.00001667628],"category_scores_gemma":[0.0009771198,0.0001426481,0.00006331367,0.0001693651,0.0002012539,0.00001119848,0.0001064277,0.0001656265,0.00004716246],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002629997,"about_ca_system_score_gemma":0.0002705925,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00007473028,"about_ca_topic_score_gemma":0.0001003974,"domain_scores_codex":[0.9982527,0.0004241976,0.0004755656,0.0003823249,0.000154882,0.0003103196],"domain_scores_gemma":[0.999028,0.00005590105,0.0002141086,0.0003404012,0.0002539327,0.0001076403],"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":[0.0003514827,0.0001847238,0.364448,0.00005263909,0.00009853161,0.0003118012,0.0004988565,0.0000277681,0.6294694,0.0002739745,0.001874109,0.002408725],"study_design_scores_gemma":[0.00290222,0.0003297894,0.05045974,0.00003060331,0.00004190216,0.002624668,0.0007992172,0.0007715572,0.9391516,0.0007801451,0.001818091,0.0002904534],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9959512,0.00147251,0.0003224661,0.0005882206,0.0001707104,0.0004094108,0.000008875396,0.00001236126,0.00106429],"genre_scores_gemma":[0.9988137,0.0001446515,0.0001546808,0.0001414063,0.00005872157,0.00009979881,0.0003206302,0.00001742377,0.0002489879],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3139882,"threshold_uncertainty_score":0.5817021,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01285469436076145,"score_gpt":0.2903037439753819,"score_spread":0.2774490496146205,"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."}}