{"id":"W4380080418","doi":"10.1186/s13223-023-00804-4","title":"Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype of a patient","year":2023,"lang":"en","type":"article","venue":"Allergy Asthma and Clinical Immunology","topic":"Blood disorders and treatments","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Congenital Neutropenia; Neutropenia; Frameshift mutation; Phenotype; Presentation (obstetrics); Medicine; Case presentation; Pediatrics; Internal medicine; Surgery; Gene; Genetics; Biology; Chemotherapy","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":true,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002146404,0.0009886195,0.0007236252,0.0009257015,0.00110024,0.000809531,0.0005448379,0.002210996,0.002130688],"category_scores_gemma":[0.001688884,0.0004105786,0.0005435722,0.0004540628,0.0006208201,0.0007636768,0.0006731966,0.00152969,0.0005207128],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005537785,"about_ca_system_score_gemma":0.0006194917,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001455725,"about_ca_topic_score_gemma":0.001053641,"domain_scores_codex":[0.9997362,0.00002518037,0.00002736579,0.00008875502,0.00004919111,0.00007318328],"domain_scores_gemma":[0.9992664,0.0001905123,0.0001156265,0.00003510278,0.00005604413,0.0003362353],"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":[0.00008240596,0.00005735137,0.02009684,0.00002410017,0.000006808744,0.9739085,0.0003110123,0.00009799623,0.00286411,0.0001944792,0.0003810424,0.0019753],"study_design_scores_gemma":[0.000008358887,0.0001137289,0.009334183,0.00001029059,0.000007054595,0.988829,0.00008167214,0.0001534076,0.0006541081,0.0001180334,0.0006774091,0.00001277978],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9911461,0.001368036,0.001089351,0.001416094,0.0001391781,0.00007054318,0.0003279385,0.00007230366,0.004370348],"genre_scores_gemma":[0.9971139,0.0005027369,0.0006271843,0.0004481523,0.0001299519,0.00001391685,0.0001242382,0.00002006153,0.00101979],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002210996,"threshold_uncertainty_score":0.007127881,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008851609719760373,"score_gpt":0.2596689875688006,"score_spread":0.2508173778490402,"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."}}