{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0008199599,0.0004809021,0.0005906459,0.001550194,0.0004545002,0.0007428037,0.0002248584,0.0003209781,0.003121827],"category_scores_gemma":[0.001826028,0.0001246531,0.0009478312,0.00160054,0.0003691688,0.0002484652,0.0005987273,0.000407289,0.0006394516],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002353475,"about_ca_system_score_gemma":0.0002937947,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001749755,"about_ca_topic_score_gemma":0.002066432,"domain_scores_codex":[0.9995727,0.00008906089,0.0000570298,0.0001389725,0.00009688373,0.00004536547],"domain_scores_gemma":[0.9991504,0.0002568093,0.0002602362,0.0001114913,0.0001183018,0.0001027971],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000916063,0.00006860553,0.8965411,0.0001813646,0.0005024764,0.002653845,0.0002977336,0.00227365,0.05349354,0.000406699,0.002093864,0.04057103],"study_design_scores_gemma":[0.00002556671,0.0002012315,0.9760058,0.0000433988,0.0002666548,0.008141905,0.00020879,0.007256603,0.004506303,0.0009117971,0.002405383,0.00002636969],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9917617,0.0004456001,0.003570248,0.0001510408,0.000009877541,0.00004032826,0.002964339,0.0001165281,0.0009403749],"genre_scores_gemma":[0.9922901,0.0001315933,0.00370388,0.00005302053,0.00001709986,0.00001820411,0.0035632,0.0000404257,0.0001825483],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003121827,"threshold_uncertainty_score":0.01044357,"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."}}