{"id":"W4220955508","doi":"10.1038/s41431-022-01077-y","title":"Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies","year":2022,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":8,"is_retracted":false,"has_abstract":false,"ca_institutions":"University Health Network; University of Toronto; Centre for Addiction and Mental Health; SickKids Foundation; Hospital for Sick Children","funders":"Canadian Institutes of Health Research; Hospital for Sick Children; University of Toronto; Deutsche Forschungsgemeinschaft; W. Garfield Weston Foundation","keywords":"Frameshift mutation; Hypotonia; Short stature; Craniofacial; Biology; Craniofacial abnormality; Choanal atresia; Hearing loss; Loss function; Genetics; Atresia; Medicine; Mutation; Anatomy; Phenotype; Endocrinology; Gene; Audiology","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0002693516,0.0001318911,0.0001416261,0.0001027883,0.0001610458,0.000040206,0.0002316488,0.00001297514,0.00002866563],"category_scores_gemma":[0.00001532667,0.0001202613,0.00004261199,0.00005745029,0.0000720996,0.000003795628,0.0002967583,0.0001305919,0.000001106502],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001105269,"about_ca_system_score_gemma":0.00007318296,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000002520934,"about_ca_topic_score_gemma":0.000018552,"domain_scores_codex":[0.9989623,0.0002321316,0.000310546,0.0001807826,0.0001491331,0.0001651191],"domain_scores_gemma":[0.9995623,0.000007484677,0.0001810328,0.0001274535,0.00003733762,0.000084404],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002090978,0.0004356092,0.8475373,0.00001994828,0.0002648454,0.001266414,0.001113305,0.002483674,0.1439479,0.00001250252,0.0004831273,0.002226304],"study_design_scores_gemma":[0.003120444,0.002054835,0.9844773,0.00001101338,0.00004065855,0.001447678,0.000949454,0.00002606445,0.0006777697,0.00001205158,0.006913844,0.0002688532],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9976875,0.001868117,0.0000234658,0.00002773856,0.00007695643,0.00009667923,0.00004447259,0.000002167312,0.00017293],"genre_scores_gemma":[0.9989825,0.0001773865,0.0005172024,0.0001040792,0.0000654043,0.00000134759,0.00003356912,0.00003654692,0.00008200053],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1432701,"threshold_uncertainty_score":0.4904114,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009269105188253085,"score_gpt":0.206836968588321,"score_spread":0.1975678634000679,"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."}}