{"id":"W1993322944","doi":"10.1158/1538-7445.am2013-1333","title":"Abstract 1333: Specific RB1 mutations and risk of subsequent neoplasms among survivors of hereditary retinoblastoma.","year":2013,"lang":"en","type":"article","venue":"Cancer Research","topic":"Ocular Oncology and Treatments","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"","keywords":"Retinoblastoma; Germline mutation; Cancer research; Germline; Biology; CDKN2A; Frameshift mutation; Retinoblastoma protein; Genetics; Exon; Nonsense mutation; Missense mutation; Mutation; Medicine; Gene; Cell cycle","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000177066,0.000155361,0.0001492762,0.0004833724,0.0002799485,0.0002040165,0.0001368883,0.0002503013,0.001555413],"category_scores_gemma":[0.000756829,0.0001168701,0.0001774605,0.0003399771,0.0001767435,0.000157062,0.0002410987,0.0002101045,0.0002067213],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001588018,"about_ca_system_score_gemma":0.0001282456,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00417012,"about_ca_topic_score_gemma":0.003516899,"domain_scores_codex":[0.9998891,0.00001591694,0.0000102906,0.00002637281,0.00002543738,0.00003293795],"domain_scores_gemma":[0.9995533,0.00006957114,0.0002269562,0.0000195444,0.00004464407,0.00008597955],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001243029,0.00002282046,0.9977539,0.000003481197,0.000009383417,0.0001460584,0.00004889728,0.00001817123,0.0009809037,0.000005957765,0.00003870233,0.0008474576],"study_design_scores_gemma":[0.000004083852,0.0001693025,0.9982557,0.000002718272,0.00001767219,0.0008772915,0.0001076445,0.0001077347,0.0003375693,0.00001039414,0.000107738,0.00000205135],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9997154,0.00005373227,0.00002154258,0.000003527424,0.000001114319,0.000001969304,0.000111979,0.00000117692,0.00008960116],"genre_scores_gemma":[0.9997168,0.00002677668,0.00001958277,0.000003599005,0.000001648226,0.000002654312,0.0001032671,6.13926e-7,0.0001250448],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00417012,"threshold_uncertainty_score":0.008291721,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04649574141735676,"score_gpt":0.3615915305884431,"score_spread":0.3150957891710863,"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."}}