{"id":"W2551720520","doi":"10.1182/blood.v108.11.992.992","title":"A Large Mennonite Family with a Novel K570N TERT Gene Mutation: Association with a Clinical Spectrum of Bone Marrow Failure, Acute Myeloid Leukemia, and Acute Liver Failure.","year":2006,"lang":"en","type":"article","venue":"Blood","topic":"Telomeres, Telomerase, and Senescence","field":"Medicine","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"","keywords":"Dyskeratosis congenita; Bone marrow failure; Aplastic anemia; Proband; Medicine; Bone marrow; Telomerase RNA component; Leukemia; Myeloid leukemia; Telomerase; Immunology; Telomerase reverse transcriptase; Internal medicine; Biology; Mutation; Stem cell; Haematopoiesis; Genetics; Gene","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":[0.0003138043,0.001496302,0.0004080252,0.00128505,0.001762359,0.0004007037,0.0004642639,0.0008833956,0.003791744],"category_scores_gemma":[0.001159065,0.0005144228,0.0003850592,0.0004946825,0.0008349618,0.0003600456,0.0007936451,0.0005201839,0.000311366],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003450199,"about_ca_system_score_gemma":0.0004379483,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00263156,"about_ca_topic_score_gemma":0.004210419,"domain_scores_codex":[0.9996754,0.00005204182,0.00003012185,0.0001392386,0.00005534484,0.00004789665],"domain_scores_gemma":[0.9993364,0.0002324555,0.0000995934,0.00002997434,0.00004442002,0.0002571257],"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":[0.0004958114,0.000389178,0.1861198,0.00008053191,0.00007959361,0.7667946,0.002345162,0.0002225632,0.03557806,0.0008183035,0.0006796254,0.006396725],"study_design_scores_gemma":[0.00006747796,0.0004034859,0.1544742,0.00004480168,0.00007783497,0.8368764,0.0006942227,0.000634922,0.003297421,0.0003814904,0.003005226,0.0000425256],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9970011,0.0001729202,0.000589674,0.0001564018,0.00002198126,0.00003666677,0.0001013049,0.00002043214,0.001899485],"genre_scores_gemma":[0.9980395,0.0000961875,0.0004648415,0.00006600123,0.00002461619,0.00001257555,0.00006002888,0.000009851835,0.001226256],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003791744,"threshold_uncertainty_score":0.01268464,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008636648863566587,"score_gpt":0.2340386853673777,"score_spread":0.2254020365038111,"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."}}