{"id":"W1964526999","doi":"10.1007/s10689-008-9198-4","title":"Identification of a mutation in exon 27 of the RB1 gene associated with incomplete penetrance retinoblastoma","year":2008,"lang":"en","type":"article","venue":"Familial Cancer","topic":"Ocular Oncology and Treatments","field":"Medicine","cited_by":14,"is_retracted":false,"has_abstract":false,"ca_institutions":"Princess Margaret Cancer Centre; University of Toronto","funders":"Deutsche Forschungsgemeinschaft","keywords":"Frameshift mutation; Exon; Penetrance; Genetics; Biology; Gene; Mutation; Retinoblastoma; Allele; Mutant; Germline mutation; Germline; Molecular biology; Phenotype","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":[0.0002678861,0.0008683272,0.000574689,0.001636619,0.0006884981,0.0003603917,0.0007474198,0.001819701,0.002503456],"category_scores_gemma":[0.001699771,0.0003693244,0.0007396808,0.0004355187,0.0009758473,0.000276691,0.0004787436,0.000901026,0.0006389283],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005098199,"about_ca_system_score_gemma":0.0005211651,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002156842,"about_ca_topic_score_gemma":0.001524924,"domain_scores_codex":[0.9996885,0.00003540876,0.00003758174,0.00008613349,0.00008000291,0.00007244961],"domain_scores_gemma":[0.998526,0.0007530607,0.000340323,0.0000906326,0.0001047195,0.0001852045],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0006789444,0.0002178544,0.04472438,0.00009410621,0.0001081416,0.7464805,0.0009907836,0.001105519,0.1975021,0.001371403,0.0006103042,0.006116035],"study_design_scores_gemma":[0.00008275254,0.0005680902,0.06821271,0.00003081342,0.0001786853,0.8329095,0.0003679662,0.003265411,0.09150646,0.0004475698,0.002373026,0.00005710789],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9964502,0.0002721763,0.001219416,0.000343701,0.00002756514,0.00002303523,0.0001837775,0.00005857492,0.001421568],"genre_scores_gemma":[0.9985391,0.00008126647,0.0006814752,0.00004209893,0.00001922134,0.00000446459,0.0001064004,0.00001380554,0.0005121666],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002503456,"threshold_uncertainty_score":0.00837487,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0197580643919871,"score_gpt":0.2744453431691886,"score_spread":0.2546872787772015,"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."}}