{"id":"W1972872507","doi":"10.1002/humu.22465","title":"Variant ATRX Syndrome with Dysfunction of<i>ATRX</i>and<i>MAGT1</i>Genes","year":2013,"lang":"en","type":"article","venue":"Human Mutation","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":10,"is_retracted":false,"has_abstract":true,"ca_institutions":"Child and Family Research Institute; University of British Columbia Hospital; Spinal Cord Injury BC; University of British Columbia","funders":"National Institute of Mental Health; Canadian Institutes of Health Research; Cancer Research UK","keywords":"ATRX; Biology; Genetics; Exon; Phenotype; Mutation; Gene; Exome sequencing","routes":{"ca_aff":true,"ca_fund":true,"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":[0.00004097808,0.00009750367,0.00007862631,0.00003580059,0.00006996182,0.00001966004,0.0000478784,0.00005011058,0.00004821906],"category_scores_gemma":[0.000004129653,0.00008672967,0.00002158711,0.00004927931,0.00005280312,0.000005893164,0.0000298279,0.00002862854,0.00001224608],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000003935794,"about_ca_system_score_gemma":0.00001895927,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005771817,"about_ca_topic_score_gemma":0.00003880985,"domain_scores_codex":[0.9994427,0.00002122142,0.0001347833,0.0002054658,0.00009040444,0.0001054498],"domain_scores_gemma":[0.9997088,0.000003040886,0.00006884972,0.0001176363,0.00006386988,0.00003779001],"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":[0.00002069906,0.00004490062,0.00264748,0.00003947994,0.00003901489,0.000005278499,0.0001099297,0.0001251288,0.9919048,0.0001314749,0.0002840068,0.004647786],"study_design_scores_gemma":[0.001422949,0.001556193,0.8355125,0.00002987207,0.00005228494,0.0002965152,0.0003328159,0.0001204892,0.1576477,0.0008225993,0.001818032,0.0003880758],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9977489,0.000214506,0.001058567,0.00004511874,0.00004525655,0.0001964265,0.000002791392,0.000007728307,0.0006807628],"genre_scores_gemma":[0.9985524,0.0000623053,0.0007840855,0.00009348632,0.00001027015,0.00003052222,0.0001240362,0.00001599353,0.0003268528],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8342571,"threshold_uncertainty_score":0.3536733,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005906923307701303,"score_gpt":0.1983571182704794,"score_spread":0.192450194962778,"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."}}