{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001516852,0.0008381539,0.0004774759,0.001560423,0.0003477588,0.0005294785,0.0007010862,0.0009156282,0.001689663],"category_scores_gemma":[0.000372179,0.0003518665,0.0004571303,0.0008033775,0.0005840014,0.0004390868,0.0003222331,0.0004090637,0.0008053558],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003322164,"about_ca_system_score_gemma":0.0002594418,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009590061,"about_ca_topic_score_gemma":0.0007098824,"domain_scores_codex":[0.9998141,0.00001776216,0.00005274299,0.00004352117,0.00003542139,0.00003642567],"domain_scores_gemma":[0.9998052,0.00004326656,0.00004500641,0.000010006,0.00004307668,0.00005351034],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"not_applicable","study_design_scores_codex":[0.000508793,0.0002500215,0.04962989,0.002670829,0.0003369208,0.5374308,0.001014773,0.001191827,0.1236123,0.001303525,0.02561886,0.2564316],"study_design_scores_gemma":[0.00003300238,0.0001837978,0.03869968,0.0001158854,0.000148749,0.9107437,0.0001877735,0.0003500582,0.006434373,0.0003499927,0.04271641,0.00003650912],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"review","genre_scores_codex":[0.7249726,0.2381917,0.009262442,0.004782154,0.001190826,0.0002075686,0.001175365,0.0006036513,0.01961371],"genre_scores_gemma":[0.8994966,0.08367835,0.005175536,0.001700404,0.001412989,0.00009482507,0.001648377,0.0000761007,0.006716914],"genre_candidate":"review","genre_consensus":null,"teacher_disagreement_score":0.001689663,"threshold_uncertainty_score":0.005652547,"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."}}