{"id":"W2080657387","doi":"10.1371/journal.pgen.1001352","title":"Ancestral Mutation in Telomerase Causes Defects in Repeat Addition Processivity and Manifests As Familial Pulmonary Fibrosis","year":2011,"lang":"en","type":"article","venue":"PLoS Genetics","topic":"Telomeres, Telomerase, and Senescence","field":"Medicine","cited_by":119,"is_retracted":false,"has_abstract":true,"ca_institutions":"Terry Fox Research Institute; University of British Columbia","funders":"National Heart, Lung, and Blood Institute; Vanderbilt University; Doris Duke Charitable Foundation; National Cancer Institute; National Institutes of Health; National Science Foundation","keywords":"Telomere; Biology; Telomerase; Processivity; Genetics; Haploinsufficiency; Telomere-binding protein; Telomerase reverse transcriptase; Mutation; Telomerase RNA component; Gene; DNA polymerase; Phenotype; DNA-binding protein","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":[],"consensus_categories":[],"category_scores_codex":[0.00009182078,0.0001944373,0.0002681618,0.0002274386,0.00004637947,0.00001465254,0.00006460174,0.0001375201,0.00005005335],"category_scores_gemma":[0.0001522702,0.0001935861,0.00003102012,0.0003241542,0.0001040181,0.0001497446,0.00003208995,0.000199717,0.00001513844],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00006648066,"about_ca_system_score_gemma":0.0001194567,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002154734,"about_ca_topic_score_gemma":0.0006499966,"domain_scores_codex":[0.9986429,0.00006319813,0.0003256716,0.0004009684,0.0002566392,0.0003106084],"domain_scores_gemma":[0.9994353,0.00005507494,0.00009025203,0.0002058207,0.00006899357,0.0001445753],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004657739,0.0007853069,0.9196483,0.0005402813,0.00001521986,0.00155287,0.002369365,0.000009939599,0.06413186,0.0000133424,0.00003002859,0.01043771],"study_design_scores_gemma":[0.0007887693,0.0003931932,0.853824,0.000347441,0.0000475148,0.0002016479,0.0003498138,0.0006544798,0.142842,0.0003237359,0.00002121242,0.0002062273],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.997847,0.0008489109,0.000003228926,0.00003995749,0.00006730256,0.0004639529,0.00001801061,0.00004963515,0.0006619563],"genre_scores_gemma":[0.9981383,0.0006704148,0.0007583181,0.0001384653,0.00009857252,0.00005636419,0.00005808322,0.00002558182,0.00005591456],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.07871014,"threshold_uncertainty_score":0.7894212,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03865659812883864,"score_gpt":0.262433230585981,"score_spread":0.2237766324571424,"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."}}