{"id":"W2122180552","doi":"10.1111/j.1399-0004.2009.01244.x","title":"A novel missense mutation in the <i>HAX1</i> gene in severe congenital neutropenia patients (Kostmann disease)","year":2009,"lang":"en","type":"letter","venue":"Clinical Genetics","topic":"Blood disorders and treatments","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Toronto; University Health Network; Queen's University","funders":"","keywords":"Medicine; Neutropenia; Research centre; Medical laboratory; Family medicine; University hospital; Pediatrics; Library science; Internal medicine; Pathology","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":[0.0004975036,0.001508366,0.0009304317,0.0007174108,0.001024248,0.0009017134,0.001088477,0.008176812,0.001779407],"category_scores_gemma":[0.003373971,0.0003828787,0.00100893,0.0005343354,0.001605571,0.0008038864,0.0005774045,0.002803763,0.0004663386],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009436053,"about_ca_system_score_gemma":0.0005906614,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00185739,"about_ca_topic_score_gemma":0.001676272,"domain_scores_codex":[0.9994405,0.0001129785,0.00008204223,0.0001407441,0.00009105806,0.0001327072],"domain_scores_gemma":[0.9983541,0.0009428574,0.0001866364,0.00005982607,0.0000961073,0.0003604363],"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":[0.0001270843,0.00001788724,0.003362077,0.00002676643,0.00001993596,0.986877,0.00007861122,0.0001537263,0.003222048,0.0006536804,0.003819768,0.001641473],"study_design_scores_gemma":[0.0001483663,0.0002136805,0.009986843,0.0000417546,0.00007140029,0.9795657,0.0001187829,0.001643695,0.002869991,0.001382939,0.003915455,0.0000413631],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8657723,0.004231437,0.00472802,0.08579585,0.007014132,0.0001555757,0.0007495052,0.0005090442,0.03104411],"genre_scores_gemma":[0.9842464,0.0005150407,0.00161596,0.007921658,0.003185038,0.00002611079,0.00009608989,0.00004486221,0.002348724],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.008176812,"threshold_uncertainty_score":0.006846309,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02268861701870442,"score_gpt":0.2933460698927068,"score_spread":0.2706574528740024,"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."}}