{"id":"W2591806628","doi":"10.1182/blood.v112.11.3101.3101","title":"Characterization of Novel Natural Mutations in Telomere Binding Protein Factor (TIN2) Identified in Patients with Bone-Marrow Failure Syndromes","year":2008,"lang":"en","type":"article","venue":"Blood","topic":"Telomeres, Telomerase, and Senescence","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"BC Cancer Agency","funders":"","keywords":"Biology; Telomere; Chromatin immunoprecipitation; Gene; Shelterin; Promoter; Dyskeratosis congenita; Molecular biology; Mutation; Genetics; Cancer research; Gene expression; 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001532662,0.0004241422,0.0002815397,0.0008864044,0.0002525005,0.0002983081,0.0002095256,0.0004477388,0.00119089],"category_scores_gemma":[0.0005329431,0.0001367194,0.0002398912,0.0004356013,0.0002208145,0.00009706254,0.0002071388,0.0002239675,0.0001666016],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000131138,"about_ca_system_score_gemma":0.00009072978,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006590692,"about_ca_topic_score_gemma":0.0007190292,"domain_scores_codex":[0.9997926,0.00002461864,0.00002610877,0.00007185991,0.00005711289,0.00002772053],"domain_scores_gemma":[0.9997547,0.00006542334,0.00007430877,0.00001513933,0.00003581035,0.00005461656],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0008822132,0.0001009486,0.6897928,0.00009540178,0.0001311662,0.01390432,0.0004828099,0.0002476134,0.2873621,0.0001143684,0.0002107859,0.006675608],"study_design_scores_gemma":[0.00004638109,0.0006256785,0.9211957,0.00001438121,0.0000957647,0.03959133,0.0002559855,0.0009919022,0.03570922,0.00009317876,0.001363531,0.00001693807],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9992575,0.0001674469,0.0002978805,0.000009608137,0.000003668391,0.000005723056,0.0001293399,0.000007839471,0.0001210113],"genre_scores_gemma":[0.999491,0.00003572812,0.0002252748,0.00001357233,0.000003818413,0.000004518993,0.000136252,0.000002871852,0.00008693719],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00119089,"threshold_uncertainty_score":0.003983974,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01452052977820496,"score_gpt":0.2234470312622112,"score_spread":0.2089265014840062,"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."}}