{"id":"W2560517927","doi":"10.1182/blood.v124.21.1607.1607","title":"Two Novel, Co-Inherited, Telomerase Reverse Transcriptase (TERT) Mutations Resulting in Inherited Aplastic Anemia and Telomere Shortening","year":2014,"lang":"en","type":"article","venue":"Blood","topic":"Telomeres, Telomerase, and Senescence","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Aplastic anemia; Medicine; Bone marrow failure; Bone marrow; Pediatrics; Anemia; Megaloblastic anemia; Myeloid; Immunology; Gastroenterology; Internal medicine; Biology; Haematopoiesis; Genetics; Stem cell","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"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":[0.0002573669,0.001494982,0.0004026362,0.000889423,0.0007204445,0.000515402,0.0006529743,0.001559456,0.003060535],"category_scores_gemma":[0.001608535,0.0004371183,0.000504579,0.0004393508,0.0007500405,0.0004160334,0.0006332956,0.00118754,0.0006059711],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006005971,"about_ca_system_score_gemma":0.0005457019,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001877946,"about_ca_topic_score_gemma":0.002642109,"domain_scores_codex":[0.9995404,0.00004853906,0.00006056254,0.0001361631,0.00008836353,0.000125937],"domain_scores_gemma":[0.9990139,0.0002758444,0.0003273803,0.00003974378,0.00006885104,0.0002742297],"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":[0.0001598814,0.0001940919,0.05520057,0.0000621793,0.00005031459,0.9180012,0.0006166651,0.000221871,0.01924848,0.0006758663,0.0007994731,0.004769333],"study_design_scores_gemma":[0.00004773333,0.0001540539,0.05355131,0.00001787158,0.00003563984,0.9407453,0.0001367128,0.0002766929,0.003287512,0.000115465,0.001617332,0.00001434466],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9951488,0.0005382581,0.001129489,0.0003152665,0.00007190709,0.00005032252,0.0003760551,0.00005456284,0.00231529],"genre_scores_gemma":[0.9969972,0.0001293709,0.0009195048,0.0001460567,0.00007642696,0.00001881942,0.0001734211,0.00001802379,0.001521203],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003060535,"threshold_uncertainty_score":0.01023853,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01883234889690621,"score_gpt":0.2733042501330881,"score_spread":0.2544719012361819,"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."}}