{"id":"W2116414062","doi":"10.1002/ajmg.a.34074","title":"Spectrum of <i>MLL2</i> (<i>ALR</i>) mutations in 110 cases of Kabuki syndrome","year":2011,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":196,"is_retracted":false,"has_abstract":true,"ca_institutions":"Health Sciences Centre","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Environmental Health Sciences; National Institute of Neurological Disorders and Stroke; National Human Genome Research Institute; National Heart, Lung, and Blood Institute; National Institutes of Health","keywords":"Kabuki syndrome; Haploinsufficiency; Frameshift mutation; Genetics; Mutation; Nonsense mutation; Biology; Gene; Phenotype; Missense mutation","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":[],"consensus_categories":[],"category_scores_codex":[0.000325746,0.0001146218,0.0003547171,0.0001060357,0.0000152706,0.000003179376,0.000359052,0.00007209578,0.000108124],"category_scores_gemma":[0.0002080197,0.00009929147,0.0001615911,0.0001793102,0.0005113355,0.000002405293,0.00008052654,0.0001274715,0.000001428096],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000007383985,"about_ca_system_score_gemma":0.0003939552,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00007075749,"about_ca_topic_score_gemma":0.00007365736,"domain_scores_codex":[0.9985315,0.00008199527,0.0006619639,0.0001350916,0.0003974986,0.0001919231],"domain_scores_gemma":[0.9988746,0.00003967393,0.0005114581,0.0002073344,0.0001187039,0.000248219],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00333224,0.009953373,0.6045971,0.0005425737,0.002845471,0.01168884,0.006452668,0.001773927,0.2479953,0.0007680336,0.007511993,0.1025385],"study_design_scores_gemma":[0.01064556,0.04163205,0.4021815,0.00189095,0.001111167,0.02407726,0.01028907,0.0003872905,0.4750118,0.002729311,0.02795832,0.002085794],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9968258,0.002363294,0.0002797277,0.0001439729,0.0001492642,0.00005661156,0.0000319787,0.000001062735,0.0001482685],"genre_scores_gemma":[0.9964083,0.002249204,0.001085577,0.0001409644,0.00007591562,0.000001940109,0.000009509764,0.00001490738,0.00001368625],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2270164,"threshold_uncertainty_score":0.4048989,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01397762321140022,"score_gpt":0.2567045010921233,"score_spread":0.2427268778807231,"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."}}