{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005843045,0.003411861,0.001184976,0.002668248,0.002322155,0.001168023,0.001488346,0.002247647,0.004299121],"category_scores_gemma":[0.003269054,0.001576967,0.001016314,0.002086374,0.002434103,0.0006640896,0.002618536,0.001611767,0.0005824849],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001065842,"about_ca_system_score_gemma":0.001048544,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.006367452,"about_ca_topic_score_gemma":0.004745625,"domain_scores_codex":[0.9987304,0.00009737449,0.0001446093,0.0003903041,0.0003272746,0.0003100421],"domain_scores_gemma":[0.9981025,0.0006849825,0.0004656833,0.0001218618,0.0001579026,0.0004670752],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0009573266,0.0003558343,0.1357119,0.0002182825,0.0001649938,0.8100715,0.004981475,0.0008966386,0.02805641,0.002422746,0.001110808,0.01505214],"study_design_scores_gemma":[0.0001256744,0.0007065163,0.1186133,0.00009663562,0.0002588778,0.8619725,0.001766042,0.000523154,0.008914555,0.001388249,0.005543076,0.0000914086],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9938945,0.0004878996,0.001622782,0.0003323506,0.00009185219,0.00009918982,0.0004920817,0.00009348551,0.002885839],"genre_scores_gemma":[0.9942457,0.0004081925,0.002085363,0.0002609273,0.00006862338,0.00006145872,0.0003505431,0.00004761597,0.002471618],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006367452,"threshold_uncertainty_score":0.01438206,"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."}}