{"id":"W3003715125","doi":"10.1002/pbc.28184","title":"Diagnostic challenges for a novel <i>SH2D1A</i> mutation associated with X‐linked lymphoproliferative disease","year":2020,"lang":"en","type":"article","venue":"Pediatric Blood & Cancer","topic":"Autoimmune and Inflammatory Disorders Research","field":"Medicine","cited_by":9,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; University of Toronto; Hospital for Sick Children","funders":"Seventh Framework Programme; European Research Council; Vetenskapsrådet; Knut och Alice Wallenbergs Stiftelse; Stiftelsen för Strategisk Forskning; European Commission; Karolinska Institutet; H2020 European Research Council; Stiftelsen för Strategisk Forskning; Swedish Cancer Foundation","keywords":"Medicine; Mutation; Cancer research; Signal transducing adaptor protein; Disease; Genetics; Receptor; Biology; Gene; Internal medicine","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":[0.001486409,0.0005754053,0.0003872845,0.001338157,0.0005467776,0.0008710274,0.0007292719,0.001402873,0.001349067],"category_scores_gemma":[0.002548897,0.0001677418,0.0001933296,0.000305646,0.000799004,0.0005967782,0.0004808854,0.0009929342,0.0005665951],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003727826,"about_ca_system_score_gemma":0.0002151877,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005126384,"about_ca_topic_score_gemma":0.00050721,"domain_scores_codex":[0.9993281,0.0001680723,0.0000908967,0.0001425576,0.0001602016,0.0001100881],"domain_scores_gemma":[0.9987769,0.0006697433,0.000144762,0.00006613848,0.000129235,0.0002132785],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"case_report","study_design_scores_codex":[0.0008217843,0.0001728027,0.4807976,0.000173328,0.00004385195,0.3142562,0.001032435,0.0007224384,0.1540174,0.002555437,0.004757515,0.0406493],"study_design_scores_gemma":[0.00004650867,0.000429157,0.125123,0.0001457868,0.00008391104,0.8144006,0.001234918,0.00611282,0.0404045,0.002371811,0.009608405,0.000038585],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9841586,0.002254761,0.004464227,0.003078443,0.00012086,0.00004404284,0.0001863019,0.0002161849,0.005476627],"genre_scores_gemma":[0.9965279,0.0003732856,0.002237086,0.0004768084,0.00009017029,0.000008048065,0.00006431379,0.0000151109,0.0002072427],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001486409,"threshold_uncertainty_score":0.007860959,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04334367787901904,"score_gpt":0.2908879590060318,"score_spread":0.2475442811270128,"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."}}