{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001558373,0.0004113751,0.0002756426,0.0006994738,0.0002555187,0.0002979744,0.0002218496,0.0003888375,0.00211217],"category_scores_gemma":[0.0003904756,0.000106301,0.0004154001,0.0003980882,0.0002193716,0.00008146089,0.0002287489,0.0002622608,0.0005870145],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001608773,"about_ca_system_score_gemma":0.0001532999,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002379817,"about_ca_topic_score_gemma":0.002411989,"domain_scores_codex":[0.9997694,0.00002327311,0.00003080606,0.0000759889,0.00006672721,0.0000339015],"domain_scores_gemma":[0.9997882,0.00004190929,0.00008603355,0.00001912406,0.00002685607,0.00003794839],"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":[0.0009696019,0.0001180976,0.1639052,0.00017815,0.0002342383,0.03538089,0.0004750062,0.0004912385,0.7734608,0.0004586164,0.001070015,0.02325809],"study_design_scores_gemma":[0.00005312105,0.0005863806,0.7351541,0.0001069578,0.0004303359,0.1313743,0.000332113,0.002733848,0.1136537,0.0004231951,0.01510905,0.00004273161],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9961336,0.0005765835,0.0009684287,0.00008466095,0.00002017691,0.00001902039,0.0009645892,0.00004676568,0.001186316],"genre_scores_gemma":[0.9980258,0.0001322294,0.000674965,0.00006253691,0.00001412411,0.000008400047,0.0006923602,0.00001445238,0.0003750659],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002379817,"threshold_uncertainty_score":0.007065952,"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."}}