{"id":"W4415719860","doi":"10.70962/jhi.20250181","title":"A <i>WAS</i> promoter variant underlying Wiskott-Aldrich syndrome in two kindreds","year":2025,"lang":"en","type":"article","venue":"Journal of Human Immunity","topic":"Cellular Mechanics and Interactions","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Universität Zürich; Ligue Contre le Cancer; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung; Institut National Du Cancer; Fondation du Souffle; Institut National de la Santé et de la Recherche Médicale; Fondation pour la Recherche Médicale; Société Française de lutte contre les Cancers et les leucémies de l'Enfant et de l'Adolescent; SCOR Corporate Foundation for Science; Rare Disease Foundation; St. Giles Foundation; Centre National de la Recherche Scientifique; Rockefeller University; Fondation Bettencourt Schueller; Agence Nationale de la Recherche; Howard Hughes Medical Institute; Fédération Enfants Cancers Santé; National Science Foundation","keywords":"Gene; Mutation; Identification (biology); Allele; Frameshift mutation; Phenotype","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000503374,0.0001098225,0.0001927416,0.0001956713,0.000133548,0.00004704349,0.0002762769,0.00007035955,0.00005429354],"category_scores_gemma":[0.00005685042,0.0001037334,0.0001399116,0.0001536244,0.00002531221,0.00001186504,0.0001215992,0.0004251895,0.000002613882],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005334667,"about_ca_system_score_gemma":0.0001169864,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001068981,"about_ca_topic_score_gemma":0.0001955879,"domain_scores_codex":[0.9990743,0.0001282157,0.0004216432,0.0001089031,0.0001028386,0.0001641334],"domain_scores_gemma":[0.9993381,0.00001321163,0.0002033671,0.0002732725,0.000130163,0.00004189109],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00004567741,0.0002942364,0.0004286093,0.00001761412,0.0001204063,0.00009750603,0.00009558808,0.0000254968,0.9965832,0.00108941,0.0005456857,0.0006565414],"study_design_scores_gemma":[0.01504049,0.006310588,0.0746441,0.001977927,0.0005282525,0.008204811,0.002775205,0.0007242205,0.7638112,0.02445078,0.09980299,0.001729386],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9944823,0.0004267376,0.001674295,0.000211492,0.0003496078,0.00008804369,0.00000222521,0.000002798153,0.002762436],"genre_scores_gemma":[0.9985186,0.00006125235,0.0002183041,0.0001660772,0.00004350135,0.000002642876,0.00001173594,0.00001083969,0.0009670047],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.232772,"threshold_uncertainty_score":0.4230126,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02083472350558144,"score_gpt":0.320220634027073,"score_spread":0.2993859105214915,"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."}}