{"id":"W1975706614","doi":"10.1371/journal.pone.0007926","title":"A Spectrum of Severe Familial Liver Disorders Associate with Telomerase Mutations","year":2009,"lang":"en","type":"article","venue":"PLoS ONE","topic":"Telomeres, Telomerase, and Senescence","field":"Medicine","cited_by":249,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia; BC Cancer Agency","funders":"National Cancer Institute; National Heart, Lung, and Blood Institute; Canadian Institutes of Health Research; National Institutes of Health","keywords":"Dyskeratosis congenita; Telomerase; Bone marrow failure; Telomere; Biology; Telomerase RNA component; Pulmonary fibrosis; Immunology; Gene mutation; Aplastic anemia; Bone marrow; Cancer research; Telomerase reverse transcriptase; Mutation; Pathology; Fibrosis; Medicine; Genetics; Gene; Haematopoiesis; Stem cell","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0001584092,0.0006125698,0.000195712,0.0006023042,0.0004469845,0.0001338299,0.0001141557,0.0002977767,0.002781207],"category_scores_gemma":[0.0006766368,0.0001147847,0.0001670825,0.0002956072,0.0003163766,0.0001386966,0.0003041983,0.000210648,0.0002871907],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00009815096,"about_ca_system_score_gemma":0.00009589973,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003019097,"about_ca_topic_score_gemma":0.0004121428,"domain_scores_codex":[0.9998709,0.00002504867,0.00001406825,0.00004034102,0.000025237,0.00002441101],"domain_scores_gemma":[0.9996542,0.0001017881,0.0001207242,0.00002272017,0.0000311421,0.00006948784],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004568347,0.0001061559,0.8404974,0.00008634483,0.0001080511,0.06913424,0.000639872,0.0003125063,0.06726079,0.0004763924,0.000952901,0.01996853],"study_design_scores_gemma":[0.00003923332,0.0003106903,0.6197042,0.00003341504,0.0001013202,0.369188,0.0002752384,0.0003712884,0.007568496,0.0005108326,0.001881812,0.00001561374],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9979487,0.0003259226,0.0007360419,0.00004367988,0.000003588336,0.000009354376,0.0000823564,0.00002979504,0.0008206228],"genre_scores_gemma":[0.9992424,0.00009893013,0.0003711175,0.00002727416,0.000009947349,0.000004748854,0.00008906909,0.000003856449,0.0001525391],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002781207,"threshold_uncertainty_score":0.009304106,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0206027571168792,"score_gpt":0.2197139958648951,"score_spread":0.1991112387480159,"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."}}