{"id":"W2113343307","doi":"10.1016/s0140-6736(03)14797-6","title":"Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNA","year":2003,"lang":"en","type":"letter","venue":"The Lancet","topic":"Telomeres, Telomerase, and Senescence","field":"Medicine","cited_by":279,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of British Columbia; BC Cancer Agency","funders":"U.S. Public Health Service; National Institutes of Health","keywords":"Dyskeratosis congenita; Pancytopenia; Bone marrow failure; Thrombopoietin; Telomerase RNA component; Telomerase; Aplastic anemia; Telomere; Dyskeratosis; Medicine; Bone marrow; Immunology; Pathology; Biology; Genetics; Gene; Hyperkeratosis; Telomerase reverse transcriptase; Stem cell; Haematopoiesis","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":[0.0009441341,0.001212704,0.001396431,0.0007128378,0.0008920471,0.001835629,0.001244946,0.02327696,0.001982032],"category_scores_gemma":[0.01043985,0.0006220198,0.0008712079,0.0005109312,0.001291469,0.00161778,0.0003916568,0.007405261,0.001121676],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001599527,"about_ca_system_score_gemma":0.0005279318,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001344079,"about_ca_topic_score_gemma":0.001540242,"domain_scores_codex":[0.9991121,0.0003687368,0.00008095191,0.0001298898,0.0001305842,0.0001777542],"domain_scores_gemma":[0.9973565,0.001686539,0.0002568645,0.0001491509,0.0002346571,0.0003162677],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0009428175,0.0001084701,0.009045168,0.0001305279,0.0000617972,0.8801904,0.0002706774,0.0002558249,0.002052085,0.002610676,0.09670511,0.007626421],"study_design_scores_gemma":[0.001093577,0.0009033183,0.01409359,0.0003062721,0.0002219454,0.9131262,0.0004468763,0.004484055,0.00154201,0.007972224,0.05569505,0.000114929],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"commentary","genre_gemma":"editorial","genre_scores_codex":[0.2222418,0.01739246,0.005074253,0.6501229,0.03929904,0.0002137382,0.0005599334,0.000846793,0.0642491],"genre_scores_gemma":[0.6661393,0.004549085,0.001667786,0.2032276,0.104488,0.00007419649,0.0002468428,0.0001488323,0.01945829],"genre_candidate":"editorial","genre_consensus":null,"teacher_disagreement_score":0.02327696,"threshold_uncertainty_score":0.01160538,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0330333532127093,"score_gpt":0.2960226877460262,"score_spread":0.262989334533317,"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."}}