{"id":"W2291273846","doi":"10.1111/cge.12769","title":"The <i><scp>MECP2</scp></i> variant c.<scp>925C</scp>&gt;T (p.<scp>Arg309Trp</scp>) causes intellectual disability in both males and females without classic features of Rett syndrome","year":2016,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":17,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Centre Hospitalier Universitaire Sainte-Justine","funders":"National Institutes of Health; Rigshospitalet; National Institute for Health and Care Research; Department of Health and Social Care; Wellcome Trust; Wellcome","keywords":"Rett syndrome; MECP2; Missense mutation; Intellectual disability; Phenotype; Psychological repression; Genetics; Asymptomatic; Biology; Neurodevelopmental disorder; Medicine; Internal medicine; 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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.00107269,0.0005936416,0.0007327148,0.00006879096,0.0002260585,0.00009795632,0.0008304686,0.0006488207,0.000004606514],"category_scores_gemma":[0.006885927,0.0004088409,0.0003041898,0.0002743229,0.002170738,0.000009597605,0.0008529947,0.00042983,0.00002008174],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003075083,"about_ca_system_score_gemma":0.0002632654,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001186443,"about_ca_topic_score_gemma":0.0004848331,"domain_scores_codex":[0.9954836,0.0005592448,0.001371809,0.001245173,0.0004425842,0.0008975377],"domain_scores_gemma":[0.9947207,0.003222778,0.0004285212,0.00109487,0.0001591195,0.0003740136],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00006512064,0.001094043,0.7003967,0.0001926625,0.0004268454,0.00005238655,0.0005920844,0.00004597988,0.2694161,0.0002219757,0.01505514,0.01244094],"study_design_scores_gemma":[0.001692288,0.001469793,0.8744197,0.0001206157,0.000103102,0.0001104827,0.0006859491,0.00003816124,0.04998354,0.0007813303,0.07044831,0.0001467412],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9898742,0.007512577,0.0001702664,0.0002295655,0.0005419006,0.0006090913,0.0001154494,0.00002458442,0.0009223305],"genre_scores_gemma":[0.9724861,0.02325901,0.001071128,0.0004755135,0.0001069111,0.0000508897,0.00003700564,0.00009498747,0.002418497],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2194325,"threshold_uncertainty_score":0.9998363,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02976622468045216,"score_gpt":0.2935810983812084,"score_spread":0.2638148737007562,"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."}}