{"id":"W2003276023","doi":"10.1002/humu.21101","title":"Functional redundancy of exon 12 of<i>BRCA2</i>revealed by a comprehensive analysis of the c.6853A&gt;G (p.I2285V) variant","year":2009,"lang":"en","type":"article","venue":"Human Mutation","topic":"CRISPR and Genetic Engineering","field":"Biochemistry, Genetics and Molecular Biology","cited_by":35,"is_retracted":false,"has_abstract":true,"ca_institutions":"Women's College Hospital; Princess Margaret Cancer Centre; University of Toronto; Jewish General Hospital; McGill University Health Centre; McGill University","funders":"National Cancer Institute; National Institutes of Health; Canadian Breast Cancer Research Alliance; U.S. Department of Defense","keywords":"Biology; Exon; Missense mutation; Genetics; Allele; BRCA2 Protein; Molecular biology; Hum; Mutation; Gene; Germline mutation","routes":{"ca_aff":true,"ca_fund":true,"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":[0.00006832947,0.00007910866,0.0001665517,0.0000666344,0.00003377318,0.000003010293,0.00007830773,0.00005795753,0.00002873583],"category_scores_gemma":[0.00001853636,0.0000685851,0.0001477966,0.0001865265,0.00004310946,0.000002266752,0.00001730249,0.00003477647,2.413942e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000006665116,"about_ca_system_score_gemma":0.0000200783,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001807374,"about_ca_topic_score_gemma":0.00001990142,"domain_scores_codex":[0.9993517,0.00003373858,0.0002623002,0.0001391778,0.0001352601,0.00007775623],"domain_scores_gemma":[0.9994708,0.00001008351,0.000161541,0.000212264,0.0001260901,0.00001919115],"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":[0.00002662763,0.00005751395,0.0007640662,0.00002106389,0.0002331609,2.976621e-7,0.0001338542,0.01182287,0.9855386,0.0002132376,0.0006064913,0.0005822038],"study_design_scores_gemma":[0.0005400705,0.0002597441,0.4715675,0.0000215155,0.0004371401,0.000004334364,0.00008347146,0.001033488,0.5252312,0.0001869988,0.0005239709,0.0001105404],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9784117,0.0005128792,0.02047955,0.000029335,0.0000499934,0.0001059107,0.00003455501,0.000003354926,0.0003727368],"genre_scores_gemma":[0.9992581,0.00001731977,0.0002344655,0.00003448456,0.00002971234,0.000002955861,0.0002495828,0.000005266852,0.0001681348],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4708034,"threshold_uncertainty_score":0.279682,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0106147605157334,"score_gpt":0.2785662987341385,"score_spread":0.2679515382184051,"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."}}