{"id":"W2979368108","doi":"10.1182/blood.v104.11.170.170","title":"Genes Encoding Telomere-Binding Proteins TERF1, TERF2 and TIN2 Are mutated in Patients with Acquired Aplastic Anemia.","year":2004,"lang":"en","type":"article","venue":"Blood","topic":"Telomeres, Telomerase, and Senescence","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"","keywords":"Telomere; Biology; Exon; Telomerase; Molecular biology; Dyskeratosis congenita; Haplotype; Mutation; Aplastic anemia; Missense mutation; Single-nucleotide polymorphism; Genetics; Gene; Immunology; Bone marrow; Genotype","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":[0.0001701689,0.0004259508,0.000255545,0.0006184051,0.0003960612,0.0002532867,0.0002239007,0.0003988291,0.001528851],"category_scores_gemma":[0.0008105514,0.0002063603,0.0001896648,0.0004092053,0.0002461026,0.0001550807,0.0001928344,0.0003210708,0.0001745988],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001717567,"about_ca_system_score_gemma":0.0001008082,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001050056,"about_ca_topic_score_gemma":0.000847223,"domain_scores_codex":[0.9998197,0.00003692209,0.00001889667,0.00005729567,0.00002778395,0.000039398],"domain_scores_gemma":[0.9996736,0.00009788843,0.0001245191,0.00001169227,0.00002441828,0.00006780785],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0008273968,0.0001142474,0.9762358,0.00003294178,0.00009754027,0.004166827,0.0002018391,0.00009333214,0.01394585,0.0000520871,0.0001874793,0.004044685],"study_design_scores_gemma":[0.0000478219,0.0003540612,0.9811324,0.00001120663,0.00008372316,0.01607513,0.0001532313,0.0003992265,0.001347409,0.00004986353,0.0003406089,0.00000527566],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.999661,0.0001068215,0.00005092943,0.0000133702,0.000002945606,0.000002112469,0.00005558445,0.000003804029,0.000103471],"genre_scores_gemma":[0.9996893,0.00003777077,0.00005903096,0.00001072534,0.000005504382,0.00000241882,0.00008327018,0.000001157486,0.0001107795],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001528851,"threshold_uncertainty_score":0.005114555,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008764602297176597,"score_gpt":0.2080814800528322,"score_spread":0.1993168777556556,"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."}}