{"id":"W2078142365","doi":"10.1038/sj.ejhg.5201063","title":"Alternatively spliced, truncated human BRCA2 isoforms contain a novel coding exon","year":2003,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"RNA and protein synthesis mechanisms","field":"Biochemistry, Genetics and Molecular Biology","cited_by":11,"is_retracted":false,"has_abstract":false,"ca_institutions":"Victoria Hospital; Queen's University; Children's & Women's Health Centre of British Columbia; Credit Valley Hospital; University of Ottawa","funders":"","keywords":"Exon; Biology; Alternative splicing; splice; RNA splicing; Complementary DNA; Gene isoform; BRCA2 Protein; Genetics; genomic DNA; RNA; Gene; Molecular biology; Mutation; Germline mutation","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":[0.0002396466,0.0004579742,0.0003265401,0.0002472732,0.0002971817,0.000496969,0.0004591875,0.0006569608,0.001315159],"category_scores_gemma":[0.0004281634,0.00028917,0.0005550491,0.0001305241,0.0004502188,0.0002727513,0.0002857396,0.0007689049,0.001348798],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003957264,"about_ca_system_score_gemma":0.0003499664,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003713681,"about_ca_topic_score_gemma":0.0005264846,"domain_scores_codex":[0.9998645,0.00001780618,0.00001771232,0.00004227769,0.00003906834,0.00001852666],"domain_scores_gemma":[0.9994643,0.0001657803,0.0001113201,0.00009536772,0.00005641541,0.0001067668],"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":[0.0002194963,0.00003719415,0.0005573414,0.00004025822,0.00001647268,0.001683561,0.00004702651,0.0002064739,0.9934195,0.0007447774,0.0002227794,0.002805148],"study_design_scores_gemma":[0.0001265843,0.0003809987,0.01814118,0.00003917768,0.00009256582,0.01651872,0.00008479392,0.003633144,0.9445277,0.001048683,0.01535462,0.0000520045],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9851821,0.00125732,0.01040513,0.0002430117,0.0001898745,0.00003235156,0.001007394,0.0002214931,0.001461314],"genre_scores_gemma":[0.9850842,0.0004132856,0.008874699,0.0001777489,0.00007941095,0.00004841035,0.002312821,0.00006326653,0.002946065],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001315159,"threshold_uncertainty_score":0.004399598,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03197553001796684,"score_gpt":0.2674592261045197,"score_spread":0.2354836960865528,"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."}}