{"id":"W2996427812","doi":"10.1007/s10875-019-00731-3","title":"A Germline Mutation in the C2 Domain of PLCγ2 Associated with Gain-of-Function Expands the Phenotype for PLCG2-Related Diseases","year":2019,"lang":"en","type":"article","venue":"Journal of Clinical Immunology","topic":"Immunodeficiency and Autoimmune Disorders","field":"Immunology and Microbiology","cited_by":45,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of British Columbia; BC Children's Hospital","funders":"Canadian Child Health Clinician Scientist Program; Rare Disease Foundation; National Heart, Lung, and Blood Institute; Cincinnati Children's Hospital Medical Center","keywords":"Missense mutation; Germline; Phenotype; Biology; Common variable immunodeficiency; Mutation; Immunology; Immune system; Phosphorylation; Immune dysregulation; Germline mutation; Genetics; Antibody; Cancer research; Gene","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.002697119,0.0001575259,0.00077713,0.0001409944,0.00009631732,0.000006508722,0.0005123987,0.0003605204,0.0001149526],"category_scores_gemma":[0.001532494,0.0000820596,0.0003683373,0.0003280084,0.0006719495,0.000117346,0.00003804323,0.0007638788,0.00001170193],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001880989,"about_ca_system_score_gemma":0.0002257755,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002250855,"about_ca_topic_score_gemma":0.00000741832,"domain_scores_codex":[0.996538,0.001144818,0.001805531,0.0001558206,0.0000894458,0.0002664168],"domain_scores_gemma":[0.9935254,0.003742274,0.002054536,0.0003173098,0.0003554638,0.000005000723],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.09577796,0.02021252,0.1875425,0.0002744609,0.01805441,0.00005598676,0.0259587,0.005976154,0.4657618,0.02901934,0.001204572,0.1501616],"study_design_scores_gemma":[0.02005823,0.009924307,0.9485032,0.0003338964,0.0006952864,0.00009119332,0.008325513,0.00008048645,0.001182794,0.007771339,0.002792905,0.0002408659],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9833717,0.01390883,0.0002726262,0.0006244168,0.00122707,0.0004186121,0.00001688197,0.000007217836,0.0001526459],"genre_scores_gemma":[0.999351,0.0002113478,0.00001761354,0.0001704577,0.00001007904,0.0000106793,0.00005723679,0.00001309691,0.0001584541],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7609607,"threshold_uncertainty_score":0.3346293,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01737671603951722,"score_gpt":0.3032731312145979,"score_spread":0.2858964151750807,"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."}}