{"id":"W2992360190","doi":"10.1182/blood.v104.11.3.3","title":"Mutations in TERT, the Gene Encoding Telomerase Reverse Transcriptase, in “Acquired” Aplastic Anemia Inhibit Enzymatic Function by a Dominant Negative Mechanism of Action.","year":2004,"lang":"en","type":"article","venue":"Blood","topic":"Telomeres, Telomerase, and Senescence","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Terry Fox Research Institute; University of British Columbia","funders":"","keywords":"Telomere; Telomerase; Biology; Molecular biology; Telomerase reverse transcriptase; Nonsynonymous substitution; Gene; Mutation; Exon; Reverse transcriptase; Telomerase RNA component; Aplastic anemia; Genetics; Immunology; Polymerase chain reaction; Bone marrow","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001736459,0.0003164315,0.0001680697,0.0003125991,0.0001179514,0.0001689803,0.0001209442,0.0002335189,0.001429051],"category_scores_gemma":[0.0004088688,0.00009815367,0.0001601564,0.0001612417,0.0001825578,0.00007441055,0.00006867644,0.0002086504,0.0002199802],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001382062,"about_ca_system_score_gemma":0.00007451855,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003779788,"about_ca_topic_score_gemma":0.0006509093,"domain_scores_codex":[0.9998633,0.00002556981,0.00002011811,0.00003347133,0.00003913982,0.00001844514],"domain_scores_gemma":[0.9998517,0.00005443657,0.00004780492,0.000008705482,0.00001812236,0.00001920442],"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":[0.0006750925,0.00005684274,0.09639159,0.0001125273,0.0001263339,0.005248495,0.0001220846,0.0002346858,0.8796961,0.0001884547,0.0004151945,0.0167325],"study_design_scores_gemma":[0.0002926792,0.001178211,0.4675461,0.00006940368,0.0004008603,0.09384799,0.000128863,0.003211864,0.4251883,0.0003785787,0.007737809,0.00001920156],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9963725,0.001944298,0.0008436242,0.00004962323,0.00001527424,0.000007540025,0.000136177,0.00002786341,0.0006031854],"genre_scores_gemma":[0.998968,0.0002778072,0.0003550607,0.00002670203,0.000009182851,0.000002542334,0.00008675086,0.000004223259,0.0002696827],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001429051,"threshold_uncertainty_score":0.00478065,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01713065027211006,"score_gpt":0.2445538816565374,"score_spread":0.2274232313844274,"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."}}