{"id":"W4395063617","doi":"10.1016/j.clim.2024.110000","title":"58 Expanding the Phenotype of BCL11B Variants: A Novel Canadian Case Series","year":2024,"lang":"en","type":"article","venue":"Clinical Immunology","topic":"Immunodeficiency and Autoimmune Disorders","field":"Immunology and Microbiology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"McMaster University","funders":"","keywords":"Phenotype; Series (stratigraphy); Genetics; Biology; Computational biology; Gene","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"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":[0.0003463989,0.001652256,0.0007143854,0.003231318,0.005336959,0.001892939,0.001665522,0.002936407,0.004421458],"category_scores_gemma":[0.00325068,0.0006984224,0.000782278,0.002793953,0.002425854,0.0008485201,0.001712966,0.002561688,0.0007980688],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00788382,"about_ca_system_score_gemma":0.00650276,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.3520233,"about_ca_topic_score_gemma":0.4038357,"domain_scores_codex":[0.9991473,0.00003777121,0.00003864684,0.0001744013,0.0002205651,0.0003813615],"domain_scores_gemma":[0.9981819,0.0002760701,0.0002349938,0.0001305744,0.0004381207,0.0007383404],"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":[0.00006098794,0.00004409388,0.0179025,0.00003853349,0.00001489349,0.9698042,0.000804743,0.0001694576,0.002357562,0.001419815,0.002302967,0.005080068],"study_design_scores_gemma":[0.00001946797,0.00003060522,0.0139133,0.00003549631,0.00002253384,0.9801484,0.0005779319,0.0002849671,0.0003273589,0.0004158741,0.004191672,0.00003239629],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9311678,0.002610063,0.002897443,0.005139131,0.0004822984,0.0002347474,0.0008397214,0.0001581087,0.05647061],"genre_scores_gemma":[0.9912785,0.0009535445,0.001620314,0.0009433664,0.0002703531,0.00002318577,0.000174715,0.00007568164,0.004660357],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6479767,"threshold_uncertainty_score":0.6999486,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03328790092438769,"score_gpt":0.315344434467166,"score_spread":0.2820565335427783,"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."}}