{"id":"W2549255458","doi":"10.1182/blood.v110.11.835.835","title":"TINF2, a Component of the Shelterin Telomere Protection Complex, Is Mutated in Dyskeratosis Congenita.","year":2007,"lang":"en","type":"article","venue":"Blood","topic":"Telomeres, Telomerase, and Senescence","field":"Medicine","cited_by":7,"is_retracted":false,"has_abstract":true,"ca_institutions":"BC Cancer Agency","funders":"","keywords":"Dyskeratosis congenita; Telomere; Genetics; Biology; Shelterin; Bone marrow failure; Proband; Mutation; 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":[0.00009350573,0.0005630202,0.0002098087,0.0005657953,0.0002484844,0.000217475,0.0002042465,0.0003965378,0.00248551],"category_scores_gemma":[0.0003081224,0.0001321606,0.0001617739,0.0002314299,0.0002156087,0.00008547788,0.0001760107,0.0002109814,0.0003140584],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002665488,"about_ca_system_score_gemma":0.00008851816,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008097752,"about_ca_topic_score_gemma":0.0008123538,"domain_scores_codex":[0.9998831,0.00001463498,0.00001405294,0.00004309294,0.00002881107,0.00001623988],"domain_scores_gemma":[0.9998955,0.00002952766,0.00003536398,0.000005514975,0.000007939405,0.00002608318],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.001470045,0.00023369,0.07999787,0.0003010516,0.000202328,0.07593535,0.0004437961,0.0007995714,0.8122633,0.001028039,0.002530952,0.02479386],"study_design_scores_gemma":[0.0002716425,0.0003760552,0.4196317,0.0001623923,0.0003724059,0.2624335,0.0004239416,0.008781044,0.2772507,0.0008392849,0.02941453,0.00004277881],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9949981,0.0007021439,0.001367928,0.00008307305,0.00004709082,0.00001893912,0.0006037719,0.00009687931,0.002082106],"genre_scores_gemma":[0.9974263,0.0001003469,0.0005306374,0.00002739469,0.00001097863,0.000006734222,0.0003511464,0.00001075961,0.001535719],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00248551,"threshold_uncertainty_score":0.008314848,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02954224866113949,"score_gpt":0.2626653948322853,"score_spread":0.2331231461711458,"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."}}