{"id":"W1794475131","doi":"10.1186/1471-2350-6-16","title":"XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene","year":2005,"lang":"en","type":"article","venue":"BMC Medical Genetics","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":33,"is_retracted":false,"has_abstract":true,"ca_institutions":"Queen's University; St. John’s Health Sciences Centre","funders":"National Health and Medical Research Council; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Medical Research Council","keywords":"Genetics; Mutation; Biology; X chromosome; Gene duplication; Exon; Point mutation; Gene; Gene mutation; Molecular biology","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":[0.0005266036,0.0001804424,0.000145102,0.0000393425,0.00007591154,0.00003612966,0.0003711421,0.0002344994,0.0000125584],"category_scores_gemma":[0.000440579,0.0001233175,0.00004144293,0.0001758469,0.0002404305,0.000002704785,0.0001639457,0.0002246335,0.000008603595],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001189671,"about_ca_system_score_gemma":0.0001613836,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001228298,"about_ca_topic_score_gemma":0.005667528,"domain_scores_codex":[0.9982262,0.0002334575,0.0004685238,0.0004159109,0.0003872966,0.0002685648],"domain_scores_gemma":[0.9992793,0.0001869454,0.00008036488,0.0003420277,0.00002733806,0.00008400554],"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":[0.001820306,0.002183702,0.2863521,0.0001920588,0.0003016547,0.0002729167,0.02864578,0.01424328,0.4060526,0.0004314053,0.02065009,0.2388541],"study_design_scores_gemma":[0.003661922,0.000189498,0.9526544,0.00005481383,0.00002272111,0.00004368764,0.002569659,0.004064013,0.01667094,0.000421056,0.01926068,0.0003866536],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9927889,0.004439624,0.0001785431,0.001660219,0.0001061199,0.000266705,0.00005282124,0.000006054244,0.0005010229],"genre_scores_gemma":[0.9890717,0.00820287,0.001188932,0.001013214,0.00007445131,0.00002465985,0.0003072915,0.00001906405,0.00009780339],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6663022,"threshold_uncertainty_score":0.5028741,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01154604100003411,"score_gpt":0.2395520085461931,"score_spread":0.228005967546159,"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."}}