{"id":"W4402267908","doi":"10.1158/1538-7445.pediatric24-a024","title":"Abstract A024 A homozygous start-loss mutation in <i>TERF1</i> causes a syndrome associated with long telomeres","year":2024,"lang":"en","type":"article","venue":"Cancer Research","topic":"Telomeres, Telomerase, and Senescence","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta; Hospital for Sick Children","funders":"","keywords":"Telomere; Mutation; Genetics; Biology; Medicine; Gene","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"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":[0.00009855707,0.00128493,0.0003966334,0.0007739352,0.0005608005,0.0002802011,0.0003523795,0.001059498,0.004945338],"category_scores_gemma":[0.0003561594,0.0002586059,0.0004698072,0.0002813068,0.0005532417,0.0002599883,0.0004177152,0.0007372891,0.001049683],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001804947,"about_ca_system_score_gemma":0.00017778,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008700651,"about_ca_topic_score_gemma":0.0005520407,"domain_scores_codex":[0.9998679,0.00001681686,0.00001563527,0.00004414735,0.00002384153,0.0000316087],"domain_scores_gemma":[0.9996778,0.00009305365,0.000082467,0.00001242688,0.00001861252,0.0001156484],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0002748559,0.0001053635,0.01856584,0.00008252356,0.0000502186,0.861316,0.0003001962,0.000122607,0.1138366,0.0003644807,0.001068234,0.00391318],"study_design_scores_gemma":[0.00004395558,0.0004869267,0.04217997,0.00003164034,0.00007455237,0.9287915,0.000230075,0.0003327449,0.02310258,0.0001846171,0.00451649,0.00002503487],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9925438,0.0004945842,0.001412131,0.0003886529,0.0001075462,0.00004187962,0.0006337556,0.0001889347,0.004188717],"genre_scores_gemma":[0.9942515,0.000322304,0.0007548534,0.0001477363,0.0001056193,0.00001975227,0.0003175626,0.00005183395,0.004028823],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004945338,"threshold_uncertainty_score":0.01654381,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.07007043103578871,"score_gpt":0.3909794290238424,"score_spread":0.3209089979880537,"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."}}