{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0002944642,0.0004004574,0.001292516,0.0004220878,0.0000927658,0.00004978573,0.0004402923,0.0003769364,0.000363033],"category_scores_gemma":[0.0005392921,0.0003125004,0.0001355299,0.0008663134,0.0001829925,0.00009255581,0.00005858115,0.0008127315,0.0002237762],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001269807,"about_ca_system_score_gemma":0.0002570311,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005483236,"about_ca_topic_score_gemma":0.0001906438,"domain_scores_codex":[0.9972642,0.0002921679,0.0006944453,0.0005057295,0.0006114233,0.0006320474],"domain_scores_gemma":[0.9979206,0.0004767457,0.0002827888,0.0009947921,0.0001949768,0.0001301194],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0005381363,0.0001232031,0.005258224,0.0007857583,0.0002791192,0.001106245,0.002201564,0.0001441101,0.007450015,0.00004854342,0.979372,0.002693049],"study_design_scores_gemma":[0.02132382,0.001757463,0.148825,0.004165539,0.002869547,0.0008693511,0.001942767,0.001042395,0.05869597,0.002287379,0.752923,0.003297778],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.7182502,0.0005668304,0.0001055355,0.2753725,0.00063976,0.001626846,0.0003855395,0.00009661478,0.002956216],"genre_scores_gemma":[0.6185019,0.0003272509,0.0008831283,0.370638,0.003671212,0.0003074671,0.001388596,0.000136834,0.004145687],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.226449,"threshold_uncertainty_score":0.9999327,"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."}}