{"id":"W2041341699","doi":"10.1136/jmg.2008.060095","title":"Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation","year":2008,"lang":"en","type":"letter","venue":"Journal of Medical Genetics","topic":"Immunodeficiency and Autoimmune Disorders","field":"Immunology and Microbiology","cited_by":55,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's & Women's Health Centre of British Columbia; Child and Family Research Institute; University of British Columbia","funders":"National Institute of Diabetes and Digestive and Kidney Diseases","keywords":"Chromatin; Biology; Mutant; Haploinsufficiency; Missense mutation; Phenotype; Molecular biology; Mutation; Genetics; Cell biology; 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":[0.0003387255,0.0005317418,0.0004213479,0.0006363274,0.000480137,0.0004191427,0.0004264145,0.00237611,0.004263063],"category_scores_gemma":[0.001793368,0.0001827485,0.0001788606,0.0003370397,0.0007290655,0.0003499599,0.0002970508,0.001431885,0.0009660366],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004164052,"about_ca_system_score_gemma":0.000218377,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004774648,"about_ca_topic_score_gemma":0.0005628129,"domain_scores_codex":[0.9996576,0.00006075737,0.0000376751,0.00007936681,0.00009396395,0.00007063663],"domain_scores_gemma":[0.9990805,0.0004366949,0.0001604692,0.00006958069,0.0001319231,0.0001207608],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0006248345,0.000154533,0.05407639,0.0001897279,0.00003629853,0.8815429,0.0003110346,0.0003117491,0.01810626,0.00286143,0.02023335,0.02155162],"study_design_scores_gemma":[0.00005459792,0.0001214846,0.02580096,0.00003190743,0.00002048557,0.9542594,0.00008212731,0.0009977082,0.003254244,0.0009717356,0.01439296,0.0000123706],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8803464,0.005541649,0.003886995,0.05439896,0.001815892,0.0002711789,0.0005922798,0.0004574118,0.05268931],"genre_scores_gemma":[0.9795871,0.001439475,0.001615515,0.006530764,0.002093917,0.00004640065,0.0001735867,0.00004029152,0.008472918],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004263063,"threshold_uncertainty_score":0.01426142,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.010298934271985,"score_gpt":0.2282103761938598,"score_spread":0.2179114419218748,"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."}}