{"id":"W1968809228","doi":"10.1038/jid.2011.20","title":"A Large Mutational Study in Pachyonychia Congenita","year":2011,"lang":"en","type":"article","venue":"Journal of Investigative Dermatology","topic":"Skin and Cellular Biology Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":74,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Saskatchewan","funders":"DNA Genotek; University of Utah","keywords":"Frameshift mutation; Genetics; Missense mutation; Nonsense mutation; Biology; Mutation; Genodermatosis; Gene; Molecular biology","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0004528642,0.0001167251,0.0002411333,0.0001656705,0.00004071267,0.000005296928,0.0002468793,0.0001436225,0.00007566925],"category_scores_gemma":[0.0003675043,0.00009744928,0.00007632167,0.0001322961,0.0003167854,0.000006673418,0.00008683963,0.0002645997,0.00001314207],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001173693,"about_ca_system_score_gemma":0.0002350619,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000007759893,"about_ca_topic_score_gemma":0.0001056335,"domain_scores_codex":[0.9985378,0.0005086382,0.0004225059,0.0001618762,0.000125812,0.0002433898],"domain_scores_gemma":[0.999271,0.00003091395,0.0002124475,0.0001347482,0.0002362516,0.0001146515],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0005817731,0.001378369,0.6794861,0.00001602961,0.0004462411,0.003099398,0.005571268,0.000002688613,0.3057984,0.001540405,0.001943732,0.0001355779],"study_design_scores_gemma":[0.004359927,0.001803285,0.3198996,0.00001692988,0.00003762644,0.006837718,0.0077108,0.00002594291,0.6528571,0.005019275,0.001176496,0.0002553372],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9978067,0.0005439858,0.0001778769,0.0001905349,0.0001082835,0.0001499897,0.00000521127,0.000001855993,0.001015528],"genre_scores_gemma":[0.9989493,0.00002036678,0.0006256115,0.0002558743,0.0000599335,0.000009205589,0.00001265029,0.00001021786,0.00005681992],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3595865,"threshold_uncertainty_score":0.3973866,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04220531482088796,"score_gpt":0.3007699252440006,"score_spread":0.2585646104231127,"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."}}