{"id":"W4392967653","doi":"10.1002/jimd.12723","title":"The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency","year":2024,"lang":"en","type":"article","venue":"Journal of Inherited Metabolic Disease","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":9,"is_retracted":false,"has_abstract":true,"ca_institutions":"Stollery Children's Hospital; University of British Columbia; Hospital for Sick Children; Women and Children’s Health Research Institute; University of Alberta; BC Children's Hospital","funders":"Instituto de Salud Carlos III; Deutsches Krebsforschungszentrum","keywords":"Movement disorders; Hypotonia; Dystonia; Choreoathetosis; Ataxia; Phenotype; Disease; Psychology; Chorea; Medicine; Psychiatry; Pediatrics; Genetics; Internal medicine; Biology","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":[0.0007351786,0.0001941965,0.0002987405,0.00011484,0.00009792033,0.00009070013,0.0004361875,0.00007640943,0.00005795483],"category_scores_gemma":[0.0006512252,0.0001303727,0.0003830137,0.0003425868,0.0001643958,0.00001488461,0.00008140114,0.0001619197,0.000008005773],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000003502882,"about_ca_system_score_gemma":0.0005457002,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000087162,"about_ca_topic_score_gemma":0.000007987047,"domain_scores_codex":[0.9982859,0.0001508929,0.000683827,0.0002183381,0.0003652557,0.0002957739],"domain_scores_gemma":[0.9986656,0.00005464261,0.0002854625,0.000392139,0.0003274946,0.0002746663],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.001322489,0.0005891326,0.005750981,0.0003669536,0.0009114371,0.0001468701,0.0005170738,0.0006076428,0.8487477,0.003931993,0.0307415,0.1063663],"study_design_scores_gemma":[0.002119065,0.0003685928,0.05285021,0.0002728187,0.001215808,0.00008591617,0.0006519123,0.0006275453,0.04466923,0.001990781,0.8945528,0.0005953673],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.7100642,0.2877917,0.0005551394,0.0002108483,0.0007181106,0.0001168088,0.0000283977,0.000007283425,0.0005075014],"genre_scores_gemma":[0.9880986,0.01046357,0.0003201894,0.0001847185,0.0004957979,0.000005892968,0.00001133361,0.00003393837,0.0003859428],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8638113,"threshold_uncertainty_score":0.5316446,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005551548505056583,"score_gpt":0.24653833270947,"score_spread":0.2409867842044134,"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."}}