{"id":"W1965861571","doi":"10.1089/gte.2007.0119","title":"Three New <i>BLM</i> Gene Mutations Associated with Bloom Syndrome","year":2008,"lang":"en","type":"article","venue":"Genetic Testing","topic":"DNA Repair Mechanisms","field":"Biochemistry, Genetics and Molecular Biology","cited_by":19,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Institute of Cancer Research; U.S. Bureau of Land Management; Institut National Du Cancer","keywords":"Frameshift mutation; Bloom syndrome; Genetics; Nonsense mutation; Gene; Mutation; Biology; Gene mutation; Nonsense; Population; Medicine; Missense mutation","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00008182337,0.0001880671,0.0001502685,0.0000363153,0.0001914246,0.00001760945,0.0001908051,0.0001184668,0.00002152783],"category_scores_gemma":[0.0003929955,0.0001828746,0.00004966043,0.0002372551,0.00006896156,0.000002316541,0.00008442834,0.00008605462,0.00002180281],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001814032,"about_ca_system_score_gemma":0.0002663033,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00007516961,"about_ca_topic_score_gemma":0.0001138894,"domain_scores_codex":[0.9988211,0.00002511185,0.0002068953,0.00040193,0.0001958152,0.0003491578],"domain_scores_gemma":[0.9992089,0.00003884612,0.0001201841,0.0003707662,0.0001131764,0.000148162],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.00001273896,0.00007263201,0.06396572,0.000005837902,0.0001372156,0.0003080851,0.00008507254,0.001939289,0.9296064,0.00001143328,0.0007645072,0.003091103],"study_design_scores_gemma":[0.002915314,0.002346187,0.5037944,0.0001222979,0.0002183816,0.006943483,0.00005142517,0.001952457,0.4784873,0.001328166,0.0006166902,0.001223896],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9808758,0.0004074055,0.01764197,0.00003487553,0.00007208393,0.0002052269,0.00001151392,0.00008716409,0.0006639406],"genre_scores_gemma":[0.9092456,0.000006748888,0.08968247,0.0001515705,0.0001112099,0.00001337005,0.00007767044,0.00004523076,0.0006661132],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.451119,"threshold_uncertainty_score":0.7457411,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02307981821716076,"score_gpt":0.2128460918151156,"score_spread":0.1897662735979549,"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."}}