{"id":"W2147710629","doi":"10.1007/s00439-010-0832-5","title":"WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations","year":2010,"lang":"en","type":"article","venue":"Human Genetics","topic":"DNA Repair Mechanisms","field":"Biochemistry, Genetics and Molecular Biology","cited_by":101,"is_retracted":false,"has_abstract":false,"ca_institutions":"Toronto General Hospital","funders":"National Cancer Institute; National Institute on Aging; Deutsche Forschungsgemeinschaft; Ellison Medical Foundation","keywords":"Genetics; Werner syndrome; Biology; Missense mutation; Exon; Locus (genetics); Pedigree chart; Mutation; Founder effect; Gene; Helicase; Allele; Haplotype","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001235373,0.000167711,0.0001225343,0.0001231012,0.0001626608,0.00005248663,0.0001693102,0.0001552585,0.000102061],"category_scores_gemma":[0.00002504363,0.0001914728,0.00004468279,0.0001074688,0.0001281427,0.000007484716,0.0001260282,0.0001966201,0.0000322089],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002629782,"about_ca_system_score_gemma":0.00004873184,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000009430522,"about_ca_topic_score_gemma":0.0008359462,"domain_scores_codex":[0.9988502,0.000055403,0.00030666,0.0003957532,0.0001274511,0.0002645675],"domain_scores_gemma":[0.9993174,0.00001129551,0.00007898672,0.0004090141,0.00009128032,0.00009199979],"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":[0.000008845179,0.0002285999,0.008095014,0.000012317,0.00004156347,0.00000606359,0.0004936456,0.0002634123,0.9863288,0.001500247,0.0003697551,0.002651668],"study_design_scores_gemma":[0.005283245,0.001578396,0.8444229,0.0000361287,0.0001311669,0.00008868338,0.0006487392,0.0009520262,0.09855954,0.004839347,0.04209451,0.001365251],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9980683,0.0004243861,0.000391774,0.00004388471,0.0002346422,0.0003864697,0.00005270126,0.00001966069,0.0003781575],"genre_scores_gemma":[0.9953884,0.0001236553,0.00290335,0.00008109867,0.0001048369,0.00007999763,0.0007647724,0.00004044889,0.000513477],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8877693,"threshold_uncertainty_score":0.7808034,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01481479326893823,"score_gpt":0.2656563470155763,"score_spread":0.250841553746638,"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."}}