{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00007696725,0.0007456992,0.0002104364,0.0004350442,0.0002925227,0.0001868501,0.0002173294,0.0003592269,0.002360031],"category_scores_gemma":[0.0003927592,0.0001204559,0.0001847157,0.0002512994,0.0005453879,0.0001044794,0.0002716214,0.0002503213,0.0005586628],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001639664,"about_ca_system_score_gemma":0.0001655782,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001058883,"about_ca_topic_score_gemma":0.001675753,"domain_scores_codex":[0.9998434,0.00001964854,0.00002371923,0.00005155265,0.00003310441,0.00002851018],"domain_scores_gemma":[0.999792,0.00004404207,0.00009190675,0.00001085895,0.00001317939,0.00004790772],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"case_report","study_design_scores_codex":[0.0005781119,0.0001071724,0.1285179,0.0001522764,0.0001605372,0.3451423,0.0006844426,0.0005119296,0.4888892,0.0006680455,0.001815658,0.03277235],"study_design_scores_gemma":[0.00005462479,0.0003763624,0.1678803,0.00003139421,0.0001129836,0.7781644,0.0002751788,0.0004021921,0.04860168,0.0002638761,0.00380613,0.00003075814],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9959961,0.0003064068,0.0007807756,0.0001283347,0.00001394874,0.00001805694,0.0002363852,0.00004182689,0.002478222],"genre_scores_gemma":[0.9987256,0.0001172029,0.0003726642,0.00004962936,0.00002266385,0.000005928546,0.000131785,0.00001381629,0.0005607994],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002360031,"threshold_uncertainty_score":0.007895052,"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."}}