{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003089557,0.001260647,0.0006550071,0.001571727,0.000672612,0.0007061855,0.0007753467,0.002269584,0.001695194],"category_scores_gemma":[0.002902088,0.0005903139,0.0009890551,0.0006414726,0.001176935,0.0004069862,0.0008653066,0.00102474,0.0004086563],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001215552,"about_ca_system_score_gemma":0.0004403256,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003704397,"about_ca_topic_score_gemma":0.004079967,"domain_scores_codex":[0.9993925,0.00006025661,0.00008670607,0.0001071791,0.0002033638,0.0001499],"domain_scores_gemma":[0.9985695,0.0004755578,0.0003697969,0.00006595351,0.0001283727,0.0003908457],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0008580883,0.0002938747,0.14819,0.0002575666,0.0001894462,0.7611692,0.001296685,0.001181225,0.06476237,0.00121923,0.002616494,0.01796586],"study_design_scores_gemma":[0.0001688764,0.0005279244,0.2070187,0.00006935237,0.0001796628,0.7358581,0.000334001,0.00138089,0.0423127,0.0008957121,0.0110999,0.0001540642],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9914613,0.001071558,0.00279249,0.0007063132,0.0002081954,0.0001248262,0.0003847217,0.0001252208,0.003125359],"genre_scores_gemma":[0.9948058,0.0004170597,0.002529189,0.0004937169,0.00008589182,0.00003901834,0.0002903229,0.0000383138,0.001300765],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003704397,"threshold_uncertainty_score":0.008819461,"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."}}