{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004966789,0.0002442179,0.000246561,0.002047056,0.0003660413,0.0006179532,0.0003979637,0.0004426696,0.001109738],"category_scores_gemma":[0.001147762,0.0001079073,0.0001579403,0.0006562271,0.001143372,0.0008086674,0.0006330458,0.0004495204,0.0002181233],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002814643,"about_ca_system_score_gemma":0.0001648932,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005614434,"about_ca_topic_score_gemma":0.000527103,"domain_scores_codex":[0.9997005,0.00006967555,0.00002596216,0.00008405566,0.00005223825,0.00006754409],"domain_scores_gemma":[0.9994959,0.0001827579,0.00007312578,0.00005106083,0.00008063806,0.0001165394],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00197585,0.0001534435,0.6762725,0.0004139629,0.0002121189,0.04072718,0.002999866,0.002262996,0.135577,0.03894619,0.002546671,0.09791236],"study_design_scores_gemma":[0.0002947447,0.0008213348,0.6215879,0.0002887765,0.0003540568,0.208936,0.003695836,0.009889494,0.02872877,0.06504059,0.06017256,0.0001899602],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9775072,0.008636491,0.004744167,0.001523939,0.00006167676,0.00002962223,0.0001464948,0.00004307227,0.007307367],"genre_scores_gemma":[0.9940788,0.002513409,0.002083595,0.0003029983,0.0001308889,0.00001749942,0.0002021984,0.000007984801,0.0006625481],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002047056,"threshold_uncertainty_score":0.003712475,"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."}}