{"id":"W4377020168","doi":"10.1016/j.ajhg.2023.04.010","title":"Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene’s candidacy in 6q16.1 deletions","year":2023,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":8,"is_retracted":false,"has_abstract":false,"ca_institutions":"Université de Montréal","funders":"Medical Research Council; Northern Counties Kidney Research Fund; National Health Research Institutes; Deutsche Forschungsgemeinschaft; Cancer Research UK; Else Kröner-Fresenius-Stiftung; National Institute for Health and Care Research; Heart of England NHS Foundation Trust; Department of Health and Social Care; National Institutes of Health; Kidney Research UK; Wellcome Trust","keywords":"Genetics; Missense mutation; Autism; Obesity; Biology; Autism spectrum disorder; Gene; Neurodevelopmental disorder; Bioinformatics; Medicine; Mutation; Endocrinology; Psychiatry","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":[0.0003414072,0.001424082,0.0003975525,0.001223057,0.0006613687,0.0003740929,0.00086467,0.0019288,0.007549288],"category_scores_gemma":[0.001153565,0.000303169,0.0006173139,0.0006141599,0.000966188,0.0002941826,0.000682689,0.001283067,0.0006991302],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002678036,"about_ca_system_score_gemma":0.0002845063,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001857959,"about_ca_topic_score_gemma":0.002708724,"domain_scores_codex":[0.9995174,0.00006445176,0.0000459201,0.00015537,0.0001430877,0.00007380824],"domain_scores_gemma":[0.9994205,0.0002085851,0.0001412879,0.00007713956,0.00003644364,0.0001160329],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.001955647,0.000286066,0.05257428,0.0002031613,0.0003435102,0.09264208,0.0006997293,0.001026084,0.8142003,0.005322242,0.001766646,0.02898027],"study_design_scores_gemma":[0.0002330753,0.0006392994,0.2551634,0.0001955619,0.0003279189,0.2627752,0.0007843369,0.003089372,0.4459998,0.004581778,0.02610478,0.0001053491],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9811661,0.001100349,0.006892822,0.001177722,0.0002850419,0.00004473909,0.002842407,0.0001857302,0.006305009],"genre_scores_gemma":[0.9928616,0.0004617659,0.003674006,0.0001582191,0.00004592475,0.00002832641,0.0008731608,0.00006050002,0.001836427],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007549288,"threshold_uncertainty_score":0.02525491,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01485020972207974,"score_gpt":0.2640807138313551,"score_spread":0.2492305041092754,"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."}}