{"id":"W2069686313","doi":"10.1038/ejhg.2014.202","title":"Five children with deletions of 1p34.3 encompassing AGO1 and AGO3","year":2014,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":62,"is_retracted":false,"has_abstract":false,"ca_institutions":"Dalhousie University","funders":"Ministero della Salute; National Institute of General Medical Sciences; Wellcome Trust; University of Washington","keywords":"Biology; Argonaute; Genetics; RNA interference; Piwi-interacting RNA; Haploinsufficiency; Germline; Gene silencing; Gene; microRNA; Phenotype; RNA","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002455803,0.00009112485,0.0001247472,0.00004595995,0.00009407473,0.00002418608,0.0001431315,0.00001848123,0.00001000865],"category_scores_gemma":[0.00001287909,0.00007469314,0.00004699757,0.00002810472,0.0001047542,0.000003203864,0.00005917844,0.00007151123,0.000001178629],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00000380695,"about_ca_system_score_gemma":0.00002510745,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000001887529,"about_ca_topic_score_gemma":0.000005212432,"domain_scores_codex":[0.9992873,0.0001448869,0.0002840919,0.00009344297,0.00009008147,0.0001001753],"domain_scores_gemma":[0.9993721,0.000005572743,0.0002743364,0.000146145,0.0001392746,0.00006259689],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0001285987,0.0003055082,0.2600783,0.00006954045,0.0007608372,0.00002236076,0.002552084,0.004814868,0.7109891,0.001694714,0.001469532,0.01711446],"study_design_scores_gemma":[0.002273133,0.004961146,0.9010742,0.0001078165,0.0002099022,0.000777412,0.0005159327,0.0000585004,0.07979172,0.0001634733,0.009680935,0.0003858808],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9945087,0.0004420954,0.003348951,0.00003359647,0.00003066265,0.00003412384,0.000006713389,0.000001756489,0.001593414],"genre_scores_gemma":[0.9952111,0.00009316389,0.004198496,0.00004199177,0.0002720862,1.985658e-7,0.00001085123,0.00001811185,0.0001540028],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6409958,"threshold_uncertainty_score":0.3045898,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006621357502110138,"score_gpt":0.2038814200479297,"score_spread":0.1972600625458196,"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."}}