{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004480267,0.0002895214,0.0006294216,0.0003508496,0.000223727,0.00001672596,0.0003520732,0.000342821,0.0001371079],"category_scores_gemma":[0.00008232134,0.000208706,0.0001148187,0.001006805,0.0004555442,0.0001447243,0.00008734901,0.0004180633,0.0005882593],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002270159,"about_ca_system_score_gemma":0.0001311837,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005703652,"about_ca_topic_score_gemma":0.0002833777,"domain_scores_codex":[0.9978374,0.000460415,0.0005784453,0.0004164232,0.00007132223,0.0006359488],"domain_scores_gemma":[0.9988049,0.0003225348,0.0002611108,0.0005513146,0.00005090215,0.000009201122],"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":[0.002761758,0.002974972,0.008590453,0.001495817,0.001713742,0.5978987,0.04529549,0.001234512,0.2476263,0.08539196,0.002699821,0.002316455],"study_design_scores_gemma":[0.00472623,0.0009523297,0.009732627,0.0001677639,0.0001254904,0.9532486,0.02115776,0.00004351702,0.006624715,0.001793165,0.0009554507,0.0004723969],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9947711,0.002913394,0.0000803612,0.0009318493,0.0002170309,0.0005888087,0.00005383882,0.00009039194,0.0003531794],"genre_scores_gemma":[0.9985389,0.00002781824,0.00005193348,0.0002312678,0.000001205692,0.0001304079,0.0003580759,0.00003099405,0.0006294068],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3553499,"threshold_uncertainty_score":0.8510782,"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."}}