{"id":"W2007053389","doi":"10.1002/humu.20432","title":"Schimke immunoosseous dysplasia: suggestions of genetic diversity","year":2006,"lang":"en","type":"article","venue":"Human Mutation","topic":"Immunodeficiency and Autoimmune Disorders","field":"Immunology and Microbiology","cited_by":64,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta","funders":"National Institutes of Health","keywords":"Biology; Genetics; Allele; Genetic heterogeneity; Mendelian inheritance; Phenotype; Gene; Locus (genetics); Epigenetics; Exon","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00009633762,0.0001057301,0.000145869,0.0001159371,0.0006916107,0.000008198486,0.0001624263,0.0001159496,0.0003745468],"category_scores_gemma":[0.00001666289,0.0001117027,0.00007669066,0.0001290155,0.0002433565,0.00007670024,0.00008207506,0.0001313501,0.0002106027],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002322213,"about_ca_system_score_gemma":0.00002276806,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001235087,"about_ca_topic_score_gemma":0.00003166856,"domain_scores_codex":[0.9992591,0.00007964553,0.0002769729,0.0001562816,0.00003916978,0.000188808],"domain_scores_gemma":[0.999554,0.00003566398,0.000147336,0.0001856226,0.00007520425,0.000002143351],"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":[0.00007205349,0.0006711729,0.01529464,0.00004918011,0.0001203236,0.00001324321,0.001881981,0.001697191,0.9486306,0.02087804,0.0004969652,0.0101946],"study_design_scores_gemma":[0.00135149,0.0001438896,0.9674038,0.00002552602,0.00007578146,0.00004854885,0.0005096573,0.00001413758,0.02463426,0.004310031,0.001293517,0.0001893551],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9892197,0.006007161,0.0005782303,0.0000265984,0.0002402672,0.0001357316,0.0000141461,0.00006377589,0.003714361],"genre_scores_gemma":[0.9981735,0.00001044559,0.00004028129,0.00001161129,0.000003218081,0.000006160092,0.0002748865,0.000008028182,0.001471809],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9521092,"threshold_uncertainty_score":0.5319381,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007641872684021394,"score_gpt":0.217331799955235,"score_spread":0.2096899272712136,"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."}}