{"id":"W2033613174","doi":"10.1016/s0165-4608(00)00303-4","title":"Identification of a novel PTEN intronic deletion in Li-Fraumeni syndrome and its effect on RNA processing","year":2000,"lang":"en","type":"article","venue":"Cancer Genetics and Cytogenetics","topic":"PI3K/AKT/mTOR signaling in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":22,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hospital for Sick Children; University of Toronto","funders":"National Cancer Institute","keywords":"PTEN; Biology; Germline; Cowden syndrome; Tumor suppressor gene; Germline mutation; Exon; Genetics; Cancer research; Li–Fraumeni syndrome; Gene; RNA splicing; Mutation; Molecular biology; Carcinogenesis; RNA; PI3K/AKT/mTOR pathway","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":[0.0001983501,0.0002074918,0.0002181776,0.00007241709,0.00005806033,0.00003275021,0.0001408471,0.0001861998,0.0000199118],"category_scores_gemma":[0.00001759191,0.0002135541,0.00003721614,0.000142219,0.00009174195,0.000004346901,0.00005010002,0.0001032623,0.000001434435],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004061647,"about_ca_system_score_gemma":0.000095848,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001181516,"about_ca_topic_score_gemma":0.00003367863,"domain_scores_codex":[0.9987295,0.00004208032,0.000355027,0.0004536393,0.0001673336,0.0002523843],"domain_scores_gemma":[0.9994577,0.00001309986,0.0001339172,0.0002347183,0.0000802647,0.00008034735],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.000138108,0.0000601465,0.004066044,0.0001531521,0.00003335324,0.000001673976,0.00008508531,0.006534833,0.8789324,0.000009213311,0.00001937187,0.1099666],"study_design_scores_gemma":[0.00168241,0.001221753,0.01828942,0.000187638,0.0000778682,0.00003014638,0.00001607148,0.01127591,0.9642732,0.00004104549,0.002538602,0.0003659782],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9753908,0.02370719,0.0003403426,0.00006539665,0.00008126297,0.0003046783,0.00004647325,0.000006476943,0.00005739959],"genre_scores_gemma":[0.9902723,0.009083843,0.0001484078,0.00009536582,0.0001097814,0.00007808099,0.00002150405,0.00003633398,0.0001543756],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1096006,"threshold_uncertainty_score":0.8708484,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01192518663867344,"score_gpt":0.2773672191089707,"score_spread":0.2654420324702973,"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."}}