{"id":"W2169157966","doi":"10.1038/ng.1084","title":"Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus","year":2012,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Telomeres, Telomerase, and Senescence","field":"Medicine","cited_by":291,"is_retracted":false,"has_abstract":false,"ca_institutions":"Alberta Children's Hospital; Mount Sinai Hospital; SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"Great Ormond Street Hospital Charity; National Heart, Lung, and Blood Institute; National Institute for Health and Care Research; Newlife the Charity for Disabled Children","keywords":"Biology; Telomere; Dyskeratosis congenita; Genetics; Telomere-binding protein; Mutation; DNA replication; Cell biology; Arabidopsis; Mutant; DNA; Gene; DNA-binding protein; Transcription factor","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":[0.0002544203,0.0002578601,0.000405216,0.0002239372,0.0001021527,0.00002190326,0.0001670142,0.0004008872,0.00009282737],"category_scores_gemma":[0.0002473189,0.0002346257,0.00008827979,0.0004807509,0.0001444639,0.00008175425,0.00006627123,0.0009051092,0.00006868917],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002415972,"about_ca_system_score_gemma":0.0002004171,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004489691,"about_ca_topic_score_gemma":0.0001603385,"domain_scores_codex":[0.9981205,0.00006945423,0.0004109633,0.0003168258,0.0004063647,0.0006758653],"domain_scores_gemma":[0.9987889,0.0001466755,0.0001142864,0.0004424405,0.0001734117,0.0003343171],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003101456,0.0006403291,0.9276788,0.0003456991,0.000137125,0.0004293596,0.004479362,0.0001706392,0.04992606,0.0009908255,0.009106888,0.005784759],"study_design_scores_gemma":[0.003617534,0.0001302776,0.929778,0.0004038731,0.0001650119,0.000430916,0.001176175,0.001095392,0.03073516,0.0001336984,0.03176945,0.0005645248],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9844967,0.01127884,0.00009745821,0.001144156,0.0009025952,0.0005107358,0.00003401296,0.00008495521,0.001450544],"genre_scores_gemma":[0.9928643,0.0008355139,0.003599048,0.001638561,0.0003523903,0.00002255242,0.00007698606,0.0000400102,0.0005706731],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02266257,"threshold_uncertainty_score":0.956776,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03146318062484808,"score_gpt":0.3041224367292729,"score_spread":0.2726592561044248,"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."}}