{"id":"W4321497882","doi":"10.3389/fnmol.2023.1097553","title":"De novo variants in MAST4 related to neurodevelopmental disorders with developmental delay and infantile spasms: Genotype-phenotype association","year":2023,"lang":"en","type":"article","venue":"Frontiers in Molecular Neuroscience","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":17,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Children's Hospital; University of Calgary","funders":"National Key Research and Development Program of China; Natural Science Foundation of Hunan Province","keywords":"Missense mutation; Exome sequencing; Biology; Proband; Neurodevelopmental disorder; Phenotype; Genetics; Hypsarrhythmia; Exome; Genotype; Epilepsy; Bioinformatics; Mutation; Gene; Neuroscience","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":[0.0003157101,0.0006950758,0.0003876984,0.001263991,0.0004391847,0.0003856213,0.0003107716,0.0006735052,0.003477989],"category_scores_gemma":[0.001188027,0.0001710448,0.0004793329,0.0007787206,0.0003410919,0.0001817717,0.0004752254,0.0002917548,0.0002473618],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002157774,"about_ca_system_score_gemma":0.0002094457,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001083119,"about_ca_topic_score_gemma":0.001060951,"domain_scores_codex":[0.9995744,0.00007403656,0.0000680896,0.0001339912,0.00008437093,0.0000651794],"domain_scores_gemma":[0.9993381,0.0002518697,0.0002656834,0.00003676211,0.00004388572,0.0000637217],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001780139,0.0001398044,0.7859236,0.0001680208,0.0004599699,0.08641598,0.0006717643,0.0008541966,0.1058913,0.0004879297,0.0004937778,0.01671354],"study_design_scores_gemma":[0.000111803,0.0003648534,0.8640826,0.00005637403,0.0003625181,0.115902,0.0003762877,0.001938589,0.01327177,0.0004222786,0.00307947,0.00003143995],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9980865,0.0003344766,0.0006898446,0.00005603318,0.000009771712,0.00001231756,0.0004092352,0.00001827347,0.000383706],"genre_scores_gemma":[0.9986575,0.0001250514,0.000580652,0.00003152921,0.0000212716,0.000008181108,0.0003197849,0.000007111246,0.0002488294],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003477989,"threshold_uncertainty_score":0.01163507,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.002944305053329845,"score_gpt":0.1996690747245298,"score_spread":0.1967247696712,"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."}}