{"id":"W4323347749","doi":"10.1080/16078454.2023.2182159","title":"A case of KAT6A syndrome with a newly discovered mutation in the <i>KAT6A</i> gene, mainly manifested as bone marrow failure syndrome","year":2023,"lang":"en","type":"article","venue":"Hematology","topic":"Immunodeficiency and Autoimmune Disorders","field":"Immunology and Microbiology","cited_by":7,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Health Promotion Administration, Ministry of Health and Welfare; Fundo de Apoio ao Ensino, à Pesquisa e Extensão, Universidade Estadual de Campinas; Southern African Science Service Centre for Climate Change and Adaptive Land Management; Tianjin Science and Technology Committee; Science and Technology on Advanced Ceramic Fibers and Composites Laboratory; Department of Sport and Recreation, Northern Territory Government; Workplace Safety and Insurance Board; Academy of Nutrition and Dietetics; Teknologi og Produktion, Det Frie Forskningsråd; Tianjin Medical University; Olga Forrai Foundation","keywords":"Proband; Sanger sequencing; Genetics; Genetic counseling; Mutation; Nonsense mutation; Medicine; Bone marrow failure; Missense mutation; Biology; Bioinformatics; Gene; Haematopoiesis","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002025794,0.001341051,0.0005732958,0.001051797,0.001145379,0.0005663853,0.000531927,0.001645451,0.001497626],"category_scores_gemma":[0.001610728,0.0006470294,0.0004064836,0.0007858778,0.00119404,0.0006379888,0.0008059216,0.0008914813,0.0003343895],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000360411,"about_ca_system_score_gemma":0.0003271489,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001062138,"about_ca_topic_score_gemma":0.001115785,"domain_scores_codex":[0.9996949,0.00003435275,0.00004288658,0.0001030112,0.00004777295,0.00007707337],"domain_scores_gemma":[0.9991296,0.0003098022,0.0002542157,0.00005091008,0.00003676987,0.0002187606],"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":[0.00004784068,0.00001820078,0.01582871,0.00002790674,0.0000122851,0.9788975,0.000241485,0.0000459299,0.003671808,0.0001470581,0.0001927077,0.0008686157],"study_design_scores_gemma":[0.00001640515,0.00005198288,0.01106089,0.000006605013,0.00002137733,0.9873862,0.00007681063,0.0001440602,0.0007401646,0.0001129215,0.0003762499,0.0000063221],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9958434,0.0006428297,0.001115127,0.0004227124,0.00004932061,0.00003048194,0.0001048207,0.00006800548,0.001723467],"genre_scores_gemma":[0.998347,0.0002631842,0.0006929914,0.0001514992,0.000118812,0.000009014509,0.00005736562,0.00001187211,0.0003482078],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001645451,"threshold_uncertainty_score":0.005010068,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007883566292256774,"score_gpt":0.2209530515684715,"score_spread":0.2130694852762147,"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."}}