{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004381465,0.0001695773,0.0003272421,0.00005826422,0.0000346264,0.00004155642,0.0001529142,0.0002690378,0.00001155991],"category_scores_gemma":[0.0001692055,0.0001442737,0.0001229156,0.0001608665,0.0002031188,0.000004596486,0.0002006612,0.0002403091,0.00001056591],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000005573856,"about_ca_system_score_gemma":0.0001724219,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00000198825,"about_ca_topic_score_gemma":0.0001806583,"domain_scores_codex":[0.9982727,0.00007811846,0.0007687524,0.0005289118,0.0001210858,0.0002304197],"domain_scores_gemma":[0.9991778,0.0001977632,0.00006274277,0.0002937459,0.00007040634,0.0001976076],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.004390851,0.004608059,0.5278525,0.001429558,0.001719106,0.003046833,0.0009778677,0.001001188,0.1190807,0.005417927,0.00176666,0.3287087],"study_design_scores_gemma":[0.005224233,0.01119234,0.8409982,0.001018635,0.0003934043,0.001850478,0.000447788,0.002839008,0.001101932,0.0004391746,0.1331504,0.001344356],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9942951,0.00124271,0.002469533,0.0004344294,0.0002676957,0.000263466,0.00007797861,0.00001480174,0.0009342994],"genre_scores_gemma":[0.9912349,0.0006704144,0.006198125,0.0003990541,0.0002354371,0.00001459748,0.00004586106,0.00002732632,0.001174286],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3273644,"threshold_uncertainty_score":0.5883311,"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."}}