{"id":"W2507405597","doi":"","title":"Contiguous Gene Deletion of Chromosome Xp in Three FamiliesEncompassing OTC, RPGR and TSPAN7 Genes","year":2015,"lang":"en","type":"article","venue":"Journal of Rare Disorders: Diagnosis & Therapy","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Health Services","funders":"","keywords":"Ornithine transcarbamylase deficiency; Genetics; Gene; Biology; Urea cycle; Phenotype; Chromosome; Arginine","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":[0.0003116947,0.001681325,0.0008221451,0.001407772,0.001290763,0.0007483242,0.00070401,0.001326718,0.002926677],"category_scores_gemma":[0.001778612,0.0005485451,0.0008480941,0.0007800738,0.001592659,0.0004066171,0.001304813,0.0007370091,0.000298888],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000683387,"about_ca_system_score_gemma":0.0005388611,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002394586,"about_ca_topic_score_gemma":0.00219869,"domain_scores_codex":[0.9993724,0.00009444656,0.00008087113,0.0001827113,0.0001268927,0.0001426759],"domain_scores_gemma":[0.9991008,0.0003372158,0.0001829877,0.00007038855,0.00006344822,0.0002452268],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0001614444,0.00008387357,0.04609787,0.00005038895,0.00005943682,0.9322448,0.0009751999,0.0002899914,0.01175164,0.0005070742,0.0002904212,0.007487758],"study_design_scores_gemma":[0.00002754198,0.0001472837,0.03842904,0.00002043736,0.0000659594,0.9551049,0.0003383537,0.0002523026,0.003907304,0.0001695386,0.001508024,0.00002920966],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9960335,0.0006210769,0.00132394,0.0002411073,0.00003910702,0.00002931901,0.0001329025,0.00004609229,0.001532981],"genre_scores_gemma":[0.9974885,0.0003538164,0.001035994,0.0001261993,0.00005476993,0.00002067416,0.0001267326,0.00002074734,0.0007725706],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002926677,"threshold_uncertainty_score":0.009790719,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02126700077861283,"score_gpt":0.2657460801980555,"score_spread":0.2444790794194427,"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."}}