{"id":"W4283832293","doi":"10.1182/blood.2022015674","title":"Human complete NFAT1 deficiency causes a triad of joint contractures, osteochondromas, and B-cell malignancy","year":2022,"lang":"en","type":"article","venue":"Blood","topic":"Signaling Pathways in Disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":17,"is_retracted":false,"has_abstract":true,"ca_institutions":"BC Cancer Agency; BC Children's Hospital; University of British Columbia","funders":"","keywords":"NFAT; Calcineurin; Cancer research; Germline; Biology; CD8; HEK 293 cells; Cell biology; Immunology; Transcription factor; Medicine; Gene; Genetics; Transplantation; Immune system; 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":[0.0001028495,0.0006972845,0.0003066246,0.000696375,0.0003197235,0.0002027674,0.000157766,0.0004353124,0.002751901],"category_scores_gemma":[0.0002850947,0.0001489884,0.0001547766,0.0003495142,0.0003956287,0.0001841628,0.0003240071,0.0003031979,0.0003798825],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001732647,"about_ca_system_score_gemma":0.0001749447,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007090981,"about_ca_topic_score_gemma":0.0008128216,"domain_scores_codex":[0.9998596,0.00001581383,0.00001337125,0.0000548481,0.00003738319,0.00001899434],"domain_scores_gemma":[0.9998841,0.0000281727,0.00003379773,0.000009927004,0.000009877425,0.00003404475],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"case_report","study_design_scores_codex":[0.001359268,0.0001343711,0.04550407,0.0003386085,0.0001181966,0.04928669,0.0003602276,0.0002913622,0.8531631,0.0007653577,0.001800846,0.04687785],"study_design_scores_gemma":[0.00009527233,0.0009832899,0.2239076,0.0001018131,0.0001821153,0.5292348,0.0002942653,0.0005887254,0.209167,0.001106106,0.03429821,0.00004088821],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.981608,0.008429714,0.00261846,0.0003622787,0.00003942462,0.00004213733,0.001665414,0.000273593,0.004960983],"genre_scores_gemma":[0.9937927,0.00189533,0.001567061,0.00009116682,0.00002287369,0.00001078901,0.0008746258,0.00002733354,0.001718218],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002751901,"threshold_uncertainty_score":0.009205997,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01794821607786281,"score_gpt":0.2319464877928284,"score_spread":0.2139982717149656,"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."}}