{"id":"W3194009700","doi":"10.1002/ajmg.a.62465","title":"Expanding the phenotype of <scp><i>ASXL3</i></scp>‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in <scp><i>ASXL3</i></scp>","year":2021,"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":25,"is_retracted":false,"has_abstract":true,"ca_institutions":"Queen's University","funders":"Medical Research Council","keywords":"Phenotype; Missense mutation; Hypertelorism; Hypotonia; Genetics; Biology; Intellectual disability; Gene; Bioinformatics","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":[0.0003969542,0.0008303567,0.0003705468,0.001563602,0.0003142474,0.0003419955,0.0003742383,0.0003462179,0.001451024],"category_scores_gemma":[0.000676107,0.0001507973,0.0005134583,0.001096452,0.0004615185,0.0003167529,0.0007912657,0.0003269584,0.0003629463],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001869564,"about_ca_system_score_gemma":0.0004123106,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001433777,"about_ca_topic_score_gemma":0.001716033,"domain_scores_codex":[0.9996604,0.00005751174,0.00005422964,0.00009403699,0.00008906905,0.00004482856],"domain_scores_gemma":[0.9997361,0.00008481388,0.00006390936,0.00003451139,0.00003163704,0.00004903373],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004421581,0.0001698305,0.4369264,0.0009707396,0.0005212813,0.1600465,0.006160518,0.001370697,0.1685875,0.001379458,0.004442145,0.2189828],"study_design_scores_gemma":[0.00003642981,0.000705223,0.5363095,0.0001798418,0.0004198141,0.4289835,0.0009596581,0.0004292344,0.01169227,0.0009837452,0.01923374,0.0000670695],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9870004,0.004079285,0.003328768,0.0001534547,0.00001414278,0.00006401631,0.0007342237,0.00009525912,0.004530428],"genre_scores_gemma":[0.9908124,0.003248082,0.003419882,0.0002175549,0.0000296185,0.00004949477,0.001111523,0.00003753339,0.001073873],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001563602,"threshold_uncertainty_score":0.004854143,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01091622997584224,"score_gpt":0.2424360458945683,"score_spread":0.231519815918726,"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."}}