{"id":"W1549532325","doi":"10.1111/cge.12363","title":"Novel <i><scp>KDM6A</scp></i> (<scp>UTX</scp>) mutations and a clinical and molecular review of the X‐linked Kabuki syndrome (<scp>KS2</scp>)","year":2014,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":138,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto","funders":"Manchester Biomedical Research Centre; Central Manchester University Hospitals NHS Foundation Trust","keywords":"Kabuki syndrome; Short stature; Hypertrichosis; Hypotonia; Missense mutation; Medicine; Mutation; Kabuki; Genetics; Pediatrics; Biology; Gene; Internal medicine","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":["metaresearch","metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.001479849,0.000475385,0.0009183295,0.0000539295,0.0001905368,0.00006841478,0.0007080716,0.0006664991,0.000002654561],"category_scores_gemma":[0.01024208,0.0003885747,0.0006849004,0.0002501329,0.001228943,0.000007380562,0.0008074499,0.0004866989,0.00001941133],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000008267198,"about_ca_system_score_gemma":0.0003264363,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000007291927,"about_ca_topic_score_gemma":0.00001322235,"domain_scores_codex":[0.9957044,0.0005226402,0.001753681,0.001074013,0.0003634534,0.000581887],"domain_scores_gemma":[0.9953613,0.001642622,0.0006931445,0.001296936,0.0004010211,0.0006050293],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00007155194,0.008593338,0.5262728,0.010761,0.005153402,0.0002553933,0.0006573953,0.000544266,0.2761591,0.003361297,0.1265441,0.04162632],"study_design_scores_gemma":[0.006530949,0.003518577,0.3838645,0.002322208,0.00252985,0.00062534,0.0004488835,0.001115151,0.01236521,0.002317243,0.5839301,0.0004319608],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9455708,0.05034335,0.001432784,0.0002268692,0.0006029417,0.0007549616,0.0002050303,0.00002260456,0.0008406808],"genre_scores_gemma":[0.8820081,0.1062121,0.003662812,0.006493823,0.0004766409,0.00004849937,0.0002171985,0.0001167363,0.0007640586],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.457386,"threshold_uncertainty_score":0.9998566,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02121898600822159,"score_gpt":0.3092446575462851,"score_spread":0.2880256715380635,"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."}}