{"id":"W2116288639","doi":"10.1002/humu.9193","title":"ConstitutionalNF1 mutations in neurofibromatosis 1 patients with malignant peripheral nerve sheath tumors","year":2003,"lang":"en","type":"article","venue":"Human Mutation","topic":"Neurofibromatosis and Schwannoma Cases","field":"Medicine","cited_by":44,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"","keywords":"Neurofibromatosis; Biology; Missense mutation; Mutation; Genetics; Cancer research; Gene; Neurofibroma; Malignant peripheral nerve sheath tumor; RNA splicing; RNA","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":[0.00008508682,0.0001754682,0.0002386703,0.0001998689,0.0001816713,0.00004577107,0.00003916933,0.00004529092,0.000253894],"category_scores_gemma":[0.00006686847,0.0001480256,0.00005972618,0.0002978643,0.0001245585,0.0002188827,0.000007760665,0.0001155845,0.0000232624],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00008614322,"about_ca_system_score_gemma":0.0001370414,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003773925,"about_ca_topic_score_gemma":0.00001833815,"domain_scores_codex":[0.9986771,0.00009416498,0.0003589368,0.0003142564,0.0003257786,0.0002297047],"domain_scores_gemma":[0.9994337,0.00003781604,0.0001039995,0.0001819994,0.0001317055,0.0001107548],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000149989,0.0007835898,0.947301,0.0001181902,0.00003422368,0.0008394292,0.0005759257,0.000506585,0.005550006,0.0437151,0.0002496169,0.0001762888],"study_design_scores_gemma":[0.003347443,0.000674032,0.9913625,0.0001960496,0.00005492809,0.0003453961,0.0001999229,0.0001098297,0.002899514,0.0004193538,0.0001855017,0.0002055095],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9951385,0.00002906084,0.0001094101,0.00007387458,0.00005887978,0.0005207651,0.00001857201,0.00006363268,0.003987368],"genre_scores_gemma":[0.9982854,6.277381e-7,0.001032438,0.0001527175,0.00001782353,0.00006143998,0.000295174,0.00002603024,0.0001283539],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.04406146,"threshold_uncertainty_score":0.6036308,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01733398223650544,"score_gpt":0.2528745964125139,"score_spread":0.2355406141760085,"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."}}