{"id":"W4404753871","doi":"10.1111/cge.14654","title":"Skipping of Exon 20 in <i>EP300</i> : A Novel Variant Linked to Rubinstein–Taybi Syndrome With Atypical and Severe Clinical Manifestations","year":2024,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Congenital limb and hand anomalies","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Western University; London Health Sciences Centre","funders":"Università degli Studi di Torino; Ministero della Salute; Ministero dell’Istruzione, dell’Università e della Ricerca; European Commission; Dipartimenti di Eccellenza","keywords":"Rubinstein–Taybi syndrome; Haploinsufficiency; Exon; Microcephaly; Intellectual disability; Biology; Genetics; Phenotype; Gene","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":[0.0001820395,0.001245989,0.0004958466,0.0008406847,0.0004109257,0.0003188742,0.0008075759,0.001281221,0.00184948],"category_scores_gemma":[0.0008643199,0.0002255799,0.000708786,0.0005081977,0.0007860007,0.000163869,0.0005350602,0.0006993019,0.0007401374],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003839065,"about_ca_system_score_gemma":0.0002575414,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002374271,"about_ca_topic_score_gemma":0.002212868,"domain_scores_codex":[0.9997085,0.00002557566,0.00003615231,0.0001113448,0.00007009238,0.00004840224],"domain_scores_gemma":[0.9993585,0.0001851267,0.0002063127,0.00003587815,0.00003982959,0.0001744485],"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":[0.0006013798,0.0001305411,0.02780869,0.0001531561,0.0001508072,0.7043161,0.0007689417,0.0006774423,0.2548884,0.0007775756,0.0009568381,0.008770145],"study_design_scores_gemma":[0.000109884,0.0005303923,0.1356877,0.00005160955,0.0001657258,0.8069918,0.0001915725,0.002235965,0.04882423,0.0006013366,0.004513925,0.00009600011],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.994551,0.0004246977,0.002569761,0.0002056664,0.00004646799,0.00005947406,0.00058455,0.0001511868,0.00140722],"genre_scores_gemma":[0.9976848,0.0001055208,0.001014228,0.0001291091,0.00004315019,0.00001271873,0.0003297694,0.00003432054,0.0006463668],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002374271,"threshold_uncertainty_score":0.006187081,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03498708894467159,"score_gpt":0.3334767870838756,"score_spread":0.298489698139204,"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."}}