{"id":"W2896008938","doi":"10.1093/hmg/ddy371","title":"A recurrent missense variant in <i>SLC9A7</i> causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation","year":2018,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Cellular transport and secretion","field":"Biochemistry, Genetics and Molecular Biology","cited_by":37,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University","funders":"Canadian Institutes of Health Research; Channel 7 Children's Research Foundation; Faculty of Medicine, McGill University","keywords":"Golgi apparatus; Biology; Glycosylation; Cell biology; Transport protein; Secretory pathway; Brefeldin A; Genetics; Endoplasmic reticulum","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0001835061,0.000173504,0.0001679372,0.00005256941,0.00006720194,0.00002040886,0.0000847488,0.0001344063,0.00001942204],"category_scores_gemma":[0.00003332505,0.0001698464,0.00004416408,0.0001179143,0.000285988,0.000005280136,0.00002821143,0.00008093122,0.000002029835],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002263951,"about_ca_system_score_gemma":0.00004641275,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004811802,"about_ca_topic_score_gemma":0.0008004371,"domain_scores_codex":[0.9988265,0.00009287343,0.0003535995,0.0004019456,0.0001529041,0.0001721811],"domain_scores_gemma":[0.9993176,0.00001022557,0.0001179979,0.0003629662,0.0001307191,0.00006052748],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0002543418,0.0001334987,0.002690637,0.00004066145,0.00002567933,0.00001170047,0.0006101003,0.00009713275,0.9954857,0.00009302364,0.000004814494,0.0005527693],"study_design_scores_gemma":[0.001521983,0.002204571,0.07973664,0.00009914408,0.000106517,0.000127393,0.0001073829,0.003277665,0.9110389,0.0003095643,0.001008377,0.0004619116],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.960686,0.0006151016,0.03818804,0.00002849523,0.00004358461,0.0003640711,0.00001047047,0.000007758945,0.00005648404],"genre_scores_gemma":[0.9975359,0.0001751703,0.001068131,0.00002842694,0.00006007883,0.00001543962,0.001081959,0.00002337301,0.00001148067],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.08444678,"threshold_uncertainty_score":0.6926136,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01512985391129358,"score_gpt":0.2500847324593924,"score_spread":0.2349548785480989,"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."}}