{"id":"W3094842796","doi":"10.1182/blood-2020-143187","title":"A Case Series of <i>TERC Variant</i> telomere Biology Disorders in Unrelated Families from Eastern Canada","year":2020,"lang":"en","type":"article","venue":"Blood","topic":"Telomeres, Telomerase, and Senescence","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Queen Elizabeth II Health Sciences Centre; Izaak Walton Killam Health Centre; Dalhousie University","funders":"","keywords":"Proband; Germline; Telomerase RNA component; Diamond–Blackfan anemia; Family history; Dyskeratosis congenita; Telomere; Medicine; Telomerase; Biology; Pediatrics; Genetics; Internal medicine; Mutation; Telomerase reverse transcriptase","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"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":[0.0002525221,0.00119671,0.0005602388,0.002367086,0.006934877,0.001907523,0.001343178,0.001244957,0.003283145],"category_scores_gemma":[0.002485765,0.0005279656,0.0005281654,0.003320521,0.001876754,0.0005139901,0.001739307,0.0009681134,0.0004758931],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00775236,"about_ca_system_score_gemma":0.01082691,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.7153916,"about_ca_topic_score_gemma":0.7833949,"domain_scores_codex":[0.9988434,0.00007406409,0.0001338575,0.000296407,0.0003048484,0.0003474678],"domain_scores_gemma":[0.9979855,0.0002814349,0.0004143779,0.0001332742,0.0004655652,0.0007198951],"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":[0.00007613343,0.00006694307,0.1844563,0.0001101501,0.0001043591,0.785349,0.006790467,0.0002830989,0.003418133,0.001103647,0.003213506,0.01502814],"study_design_scores_gemma":[0.00001893441,0.00003518187,0.09881745,0.0001011871,0.00009415004,0.8871806,0.004888169,0.0003258812,0.000812319,0.000283367,0.007384208,0.00005849974],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9761156,0.002553405,0.001153992,0.0008468196,0.0001127479,0.0001350269,0.0005922967,0.00007809974,0.01841192],"genre_scores_gemma":[0.9946472,0.001382489,0.0007528966,0.000470949,0.00005353073,0.0000209372,0.0002812859,0.00004915939,0.002341528],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2846084,"threshold_uncertainty_score":0.5725689,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01269985592218409,"score_gpt":0.2102876177306053,"score_spread":0.1975877618084212,"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."}}