{"id":"W4386301105","doi":"10.1093/brain/awad292","title":"<i>SLC6A1</i> variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis","year":2023,"lang":"en","type":"article","venue":"Brain","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":22,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children’s Health Research Institute; London Health Sciences Centre; Western University","funders":"National Institute of Neurological Disorders and Stroke; National Institutes of Health; Agencia Nacional de Investigación y Desarrollo; Bundesministerium für Bildung und Forschung; Fonds National de la Recherche Luxembourg; Deutsche Forschungsgemeinschaft; Dravet Syndrome Foundation","keywords":"Phenotype; Pathogenicity; Genetics; Biology; Computational biology; 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":[],"consensus_categories":[],"category_scores_codex":[0.0002681536,0.00009862669,0.0001368465,0.00006402624,0.00007577443,0.00003477928,0.00005693216,0.0001109046,0.00002493768],"category_scores_gemma":[0.00006399764,0.00009642141,0.00009140005,0.0002304982,0.00005564855,0.000002465786,0.0001345057,0.00004835319,0.00001539635],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000003170661,"about_ca_system_score_gemma":0.00002816664,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002964379,"about_ca_topic_score_gemma":0.00005179114,"domain_scores_codex":[0.999171,0.00009269901,0.0002014291,0.0003105616,0.00006786786,0.0001564522],"domain_scores_gemma":[0.9996176,0.00002547254,0.00004851023,0.0002031343,0.00002891348,0.00007642159],"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":[0.0003359311,0.0002833498,0.2568408,0.0001186952,0.00481851,0.0001600688,0.0003814456,0.001818639,0.6781701,0.007980842,0.01445246,0.03463913],"study_design_scores_gemma":[0.001067537,0.0004341069,0.9713055,0.000004940316,0.0007788306,0.00004107013,0.000180217,0.002683268,0.001596928,0.001836415,0.0197051,0.0003661261],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9908395,0.000532607,0.007606167,0.0005356043,0.00006820249,0.00008765642,0.00003390752,0.00002047454,0.0002758543],"genre_scores_gemma":[0.9977435,0.0002100937,0.0005392331,0.0005862132,0.0001154157,0.00001062099,0.0001331486,0.00001215131,0.0006496182],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7144646,"threshold_uncertainty_score":0.3931951,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00866657848440949,"score_gpt":0.2463123943136329,"score_spread":0.2376458158292235,"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."}}