{"id":"W3087268155","doi":"10.1002/mdc3.13092","title":"The Wide Phenotypic Spectrum of <scp>L‐2</scp> Hydroxyglutaric Aciduria in Adults","year":2020,"lang":"en","type":"article","venue":"Movement Disorders Clinical Practice","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"Institute of Nutrition, Metabolism and Diabetes","funders":"Volkswagen Foundation","keywords":"Phenotype; Medicine; Genetics; 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00009070296,0.0003737026,0.0001954886,0.0006605787,0.0002706871,0.0002692362,0.0002109381,0.0005741307,0.02226793],"category_scores_gemma":[0.0005006402,0.000108198,0.0002483605,0.0005262042,0.0001590635,0.0002242132,0.0002863087,0.0003259158,0.002930958],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001391846,"about_ca_system_score_gemma":0.0001777638,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002655368,"about_ca_topic_score_gemma":0.003005196,"domain_scores_codex":[0.9999317,0.000008885245,0.000006693133,0.00001760017,0.0000227734,0.0000123928],"domain_scores_gemma":[0.9998835,0.0000299503,0.000028852,0.000007367093,0.0000190115,0.00003134864],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.001560889,0.0001537121,0.1714867,0.00075116,0.00009177395,0.178581,0.0009438016,0.0004192906,0.07906596,0.003848495,0.1819274,0.3811699],"study_design_scores_gemma":[0.0001575245,0.0002910408,0.393951,0.0007176918,0.0001189041,0.4583007,0.0009780922,0.0007794414,0.01812708,0.003438342,0.1230542,0.00008606669],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8162527,0.01125912,0.01268474,0.007433861,0.0007559927,0.0001889989,0.02619997,0.002916086,0.1223086],"genre_scores_gemma":[0.945056,0.008101168,0.00981969,0.001907093,0.00033677,0.0001124572,0.007545366,0.0003620821,0.02675936],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02226793,"threshold_uncertainty_score":0.07449365,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01218547640421224,"score_gpt":0.2891696041972818,"score_spread":0.2769841277930696,"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."}}