{"id":"W2005412082","doi":"10.1016/j.pediatrneurol.2014.06.009","title":"A Novel Nonsense Mutation in SCN9A in a Moroccan Child With Congenital Insensitivity to Pain","year":2014,"lang":"en","type":"article","venue":"Pediatric Neurology","topic":"Ion channel regulation and function","field":"Biochemistry, Genetics and Molecular Biology","cited_by":19,"is_retracted":false,"has_abstract":false,"ca_institutions":"Montreal Neurological Institute and Hospital; McGill University; Université de Montréal","funders":"","keywords":"Nonsense mutation; Mutation; Nonsense; Anosmia; Genetics; Exon; Medicine; Stop codon; Erythromelalgia; Gene; Disease; Internal medicine; Biology; Missense mutation; Dermatology","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":[0.0004041111,0.0001123598,0.0001185672,0.0002176254,0.0000279631,0.000007132322,0.00004558613,0.0001243315,0.000003952655],"category_scores_gemma":[0.0002493323,0.0001107859,0.00002268169,0.000282067,0.00002462844,0.000003607952,0.00003169117,0.0001215625,0.00000835076],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000008074556,"about_ca_system_score_gemma":0.00003371299,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001136575,"about_ca_topic_score_gemma":0.001448883,"domain_scores_codex":[0.9990098,0.0002132255,0.0001632067,0.0003305555,0.00007708654,0.0002061326],"domain_scores_gemma":[0.9996534,0.00005383818,0.00005049805,0.000136052,0.00004350851,0.00006272574],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.01192748,0.001923276,0.674971,0.0001120798,0.00006835655,0.000549422,0.00146671,0.09418987,0.1733433,0.0004385229,0.002469992,0.03853986],"study_design_scores_gemma":[0.008365262,0.006276534,0.9168161,0.000006308681,0.00004077148,0.001234064,0.00008873973,0.05393387,0.005092231,0.00008100616,0.007208552,0.0008565985],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9821506,0.00001304501,0.0160479,0.001136616,0.0001713389,0.0002069169,0.000004547632,0.00001119238,0.0002579079],"genre_scores_gemma":[0.9969385,0.000006471394,0.0001615306,0.002309942,0.0004712824,0.00002553754,0.0000422796,0.00001496336,0.00002954029],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.241845,"threshold_uncertainty_score":0.451772,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005688983389160513,"score_gpt":0.2018053013318683,"score_spread":0.1961163179427078,"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."}}