{"id":"W2520585316","doi":"10.1111/ped.13018","title":"Critical Diamond–Blackfan anemia due to <i>ribosomal protein S19</i> missense mutation","year":2016,"lang":"en","type":"article","venue":"Pediatrics International","topic":"RNA modifications and cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia; Child and Family Research Institute; Vancouver Coastal Health","funders":"Japan Society for the Promotion of Science","keywords":"Medicine; Diamond–Blackfan anemia; Tachypnea; Missense mutation; Anemia; Pediatrics; Pure red cell aplasia; Hemoglobin; Prednisolone; Mutation; Physiology; Internal medicine; Gene; Genetics; Biology","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":[0.0001519009,0.00135556,0.0005639282,0.0008351846,0.0007775901,0.0004067235,0.0003776822,0.001577442,0.0016266],"category_scores_gemma":[0.0007171449,0.000370848,0.0003474203,0.0002941646,0.000780137,0.0004402528,0.0006300512,0.001063543,0.0002356421],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004527615,"about_ca_system_score_gemma":0.0003766946,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001082165,"about_ca_topic_score_gemma":0.00100743,"domain_scores_codex":[0.9997595,0.00003246761,0.00001937974,0.00006310889,0.00003760922,0.00008778965],"domain_scores_gemma":[0.999615,0.0001185987,0.00008746594,0.000009189937,0.00001624319,0.0001535096],"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":[0.00005933459,0.00001912022,0.006244408,0.00002802188,0.00000642709,0.9870149,0.00005674715,0.00004658656,0.004671122,0.0002548796,0.0003503261,0.001248134],"study_design_scores_gemma":[0.00003039012,0.0001124915,0.008968606,0.00001571426,0.00002378706,0.9860159,0.0000769389,0.0002820144,0.003185486,0.0002585909,0.001019623,0.00001042582],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9890921,0.002174724,0.001948981,0.0009487077,0.0001702341,0.00007595479,0.0001349085,0.0001308458,0.005323486],"genre_scores_gemma":[0.9980094,0.0004711944,0.0005893207,0.0002007943,0.0001385284,0.000007755839,0.00004717324,0.00001139559,0.0005245061],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0016266,"threshold_uncertainty_score":0.005441546,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008715610405301761,"score_gpt":0.2784009300935721,"score_spread":0.2696853196882704,"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."}}