{"id":"W2040822029","doi":"10.1111/cge.12175","title":"Telomere shortening by mutations in the <i><scp>RTEL1</scp></i> helicase cause severe form of dyskeratosis congenita, Hoyerall‐Hreidarsson syndrome","year":2013,"lang":"en","type":"letter","venue":"Clinical Genetics","topic":"Telomeres, Telomerase, and Senescence","field":"Medicine","cited_by":9,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre for Drug Research and Development","funders":"","keywords":"Dyskeratosis congenita; Telomere; Genetics; Biology; Mutation; Germline; Folliculin; Telomerase; Germline mutation; Telomere-binding protein; DNA; 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":[0.0005201624,0.0008901512,0.0008536857,0.0006710945,0.001408735,0.0009416635,0.0007552498,0.0116274,0.003512501],"category_scores_gemma":[0.004023665,0.0003958715,0.0007784976,0.0004576569,0.001229158,0.001236214,0.0004724996,0.007379285,0.002060195],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002082812,"about_ca_system_score_gemma":0.000868479,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004362763,"about_ca_topic_score_gemma":0.005564346,"domain_scores_codex":[0.9994956,0.0001285487,0.00006355107,0.0000885242,0.0001165326,0.0001072067],"domain_scores_gemma":[0.9990783,0.0004496501,0.00008018284,0.00005058293,0.0001774921,0.0001638243],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0004012187,0.000248523,0.01913406,0.0001539083,0.0001084491,0.6165659,0.0005025748,0.00059518,0.00319915,0.005130848,0.3215431,0.03241711],"study_design_scores_gemma":[0.0006391752,0.0004320968,0.02891844,0.0005432863,0.0002258269,0.7280732,0.0007715096,0.004917548,0.002499328,0.01502418,0.2178062,0.0001491222],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"commentary","genre_gemma":"commentary","genre_scores_codex":[0.06436704,0.007863909,0.001495049,0.8577446,0.01926324,0.0001492731,0.0003435029,0.0002621818,0.04851123],"genre_scores_gemma":[0.528375,0.01002292,0.002506581,0.3595953,0.05937784,0.0001357207,0.000272736,0.0001230581,0.03959085],"genre_candidate":"commentary","genre_consensus":"commentary","teacher_disagreement_score":0.0116274,"threshold_uncertainty_score":0.01511192,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05460978376741522,"score_gpt":0.3281334411992679,"score_spread":0.2735236574318526,"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."}}