{"id":"W1993781709","doi":"10.1016/j.jaci.2009.10.007","title":"ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia","year":2009,"lang":"en","type":"article","venue":"Journal of Allergy and Clinical Immunology","topic":"Ion Channels and Receptors","field":"Neuroscience","cited_by":318,"is_retracted":false,"has_abstract":false,"ca_institutions":"Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"National Institute of Allergy and Infectious Diseases; Institut National de la Santé et de la Recherche Médicale; GlaxoSmithKline; Agence Nationale de la Recherche; National Institutes of Health; Charles H. Hood Foundation; March of Dimes Foundation","keywords":"ORAI1; Biology; Missense mutation; Nonsense mutation; Cell biology; Mutation; Genetics; Cancer research; STIM1; Gene","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":[0.0002245456,0.00124337,0.0005121453,0.00126221,0.0003583567,0.0003048361,0.0004481569,0.001151679,0.002749839],"category_scores_gemma":[0.0006675855,0.000366425,0.0002522793,0.0005079655,0.0007544599,0.000394941,0.0005616134,0.0005845407,0.0003500845],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000190726,"about_ca_system_score_gemma":0.0002091015,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004882091,"about_ca_topic_score_gemma":0.0007483071,"domain_scores_codex":[0.9997583,0.00004004002,0.00003919614,0.00004806783,0.0000684189,0.00004602417],"domain_scores_gemma":[0.9995034,0.0001471154,0.0001683127,0.00003020952,0.0000174673,0.000133422],"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":[0.002598885,0.0002750659,0.02325161,0.00030251,0.0001651848,0.1470443,0.0002597758,0.0004574816,0.8130925,0.001549732,0.0006787411,0.01032426],"study_design_scores_gemma":[0.0005503101,0.001030401,0.2752925,0.0001155706,0.0003869783,0.5346378,0.0005925985,0.003193913,0.1759446,0.002618453,0.005549555,0.00008749918],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9957482,0.0009083399,0.0006980216,0.0002038532,0.00002598144,0.00002130154,0.0002406808,0.00006358157,0.002089988],"genre_scores_gemma":[0.9974554,0.0003777072,0.001106626,0.00007784437,0.00002422,0.00001382501,0.0001392603,0.00001746504,0.0007876203],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002749839,"threshold_uncertainty_score":0.009199083,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04996443267539596,"score_gpt":0.3342412600806268,"score_spread":0.2842768274052309,"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."}}