{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001812391,0.001462628,0.000479935,0.0008005709,0.0004015513,0.0003382581,0.0004856361,0.0009296731,0.001834724],"category_scores_gemma":[0.0007283784,0.0002274698,0.0004091351,0.000494657,0.0008125645,0.0002663029,0.0005151454,0.0005036168,0.0002979286],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002966127,"about_ca_system_score_gemma":0.0002664215,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009093909,"about_ca_topic_score_gemma":0.0008006518,"domain_scores_codex":[0.9996636,0.00003723632,0.00004144309,0.0001237333,0.0000814297,0.00005253247],"domain_scores_gemma":[0.9996755,0.00008788463,0.0001132355,0.00002064718,0.00002099728,0.00008179688],"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":[0.0006246732,0.0001257633,0.06929567,0.0001445135,0.0002041807,0.5864517,0.000863654,0.001281064,0.3247872,0.001970489,0.0007670605,0.01348403],"study_design_scores_gemma":[0.00008240812,0.0004121487,0.1034761,0.00002856198,0.0001912902,0.8451886,0.0002710629,0.001669595,0.04537396,0.0007842832,0.002488563,0.0000332651],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.996047,0.0003048635,0.001926183,0.0001295338,0.00002628628,0.0000161595,0.0002167068,0.00009607588,0.001237259],"genre_scores_gemma":[0.9982914,0.0001105124,0.000823222,0.00007307542,0.00002714666,0.000006032794,0.0001292079,0.00001744362,0.0005220028],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001834724,"threshold_uncertainty_score":0.006137729,"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."}}