{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000313435,0.001205675,0.0003221971,0.001159441,0.0006786877,0.0001981559,0.0005460469,0.0006419919,0.007456372],"category_scores_gemma":[0.0008995711,0.0002641618,0.0003688401,0.0005144196,0.0005079882,0.0002120802,0.0005464439,0.0004285598,0.0007523119],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002764097,"about_ca_system_score_gemma":0.0001777428,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001099985,"about_ca_topic_score_gemma":0.00136406,"domain_scores_codex":[0.9996781,0.00005353646,0.00002707854,0.000110555,0.00007096143,0.00005985208],"domain_scores_gemma":[0.9997116,0.00008747348,0.0001176708,0.00001598057,0.00001233897,0.00005495689],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00108051,0.0002976985,0.4579654,0.000312244,0.0001914965,0.3039968,0.00209802,0.0004506795,0.2023687,0.0008850259,0.00136374,0.02898967],"study_design_scores_gemma":[0.0001401918,0.00123267,0.5998168,0.0001258501,0.0002168012,0.3716202,0.0003937301,0.0004930051,0.02058146,0.0004258687,0.004912477,0.00004105742],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9987625,0.0002199253,0.0002219954,0.00003886624,0.000003368766,0.00002180076,0.0001337974,0.00002904973,0.0005687117],"genre_scores_gemma":[0.9981019,0.0001783515,0.0007119984,0.00003330702,0.00001015903,0.00002241448,0.0003413639,0.00001074649,0.0005897661],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007456372,"threshold_uncertainty_score":0.02494401,"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."}}