{"id":"W4388518164","doi":"10.1093/hmg/ddad188","title":"Clinical features, functional consequences, and rescue pharmacology of missense <i>GRID1</i> and <i>GRID2</i> human variants","year":2023,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":13,"is_retracted":false,"has_abstract":true,"ca_institutions":"Western University; Children's Hospital of Western Ontario; University of Toronto; SickKids Foundation; Canada Research Chairs; Hospital for Sick Children","funders":"National Center for Advancing Translational Sciences; National Institute of Allergy and Infectious Diseases; National Institute of Neurological Disorders and Stroke; National Institute of General Medical Sciences; Emory University; National Institute on Aging; National Cancer Institute; National Institutes of Health; Sage Therapeutics; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Simons Foundation Autism Research Initiative","keywords":"Biology; Missense mutation; Phenotype; Receptor; Gene; Transmembrane domain; Genetics; Mutation; Cell biology; Neuroscience","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":[0.0001461707,0.0008155859,0.000296336,0.0002836394,0.0002511071,0.0001806308,0.000242682,0.0005808245,0.001318735],"category_scores_gemma":[0.0005338775,0.0001545487,0.0003221188,0.0002077519,0.0005741839,0.0001481505,0.0001874128,0.0004071562,0.0002746502],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002484887,"about_ca_system_score_gemma":0.0001851867,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001535561,"about_ca_topic_score_gemma":0.001022639,"domain_scores_codex":[0.9998475,0.00002113017,0.00002471192,0.00005322134,0.00002486264,0.00002853546],"domain_scores_gemma":[0.9998223,0.00004535032,0.00003986754,0.00001331504,0.00001362666,0.00006563068],"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":[0.004262212,0.0007266973,0.06445711,0.0001964192,0.0001590305,0.2030127,0.0004354939,0.001359449,0.7048813,0.000865324,0.001201174,0.01844306],"study_design_scores_gemma":[0.0004805317,0.006093382,0.3607876,0.00004611336,0.0003335105,0.4734072,0.0004796162,0.003601889,0.1493674,0.0007871702,0.00453273,0.00008274718],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9967932,0.0002887096,0.0007726417,0.00009169857,0.00001902627,0.00003017491,0.0004054223,0.0000502539,0.001548887],"genre_scores_gemma":[0.9987494,0.0001208567,0.000342146,0.000092962,0.000007795104,0.00001032685,0.000253332,0.00001940012,0.0004038474],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001535561,"threshold_uncertainty_score":0.004411578,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0271011678371805,"score_gpt":0.3126946650734241,"score_spread":0.2855934972362436,"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."}}