{"id":"W2765501413","doi":"10.1534/genetics.117.300137","title":"Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency","year":2017,"lang":"en","type":"article","venue":"Genetics","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":103,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"Canadian Institutes of Health Research; Ontario Genomics; Genome Canada","keywords":"Pyridoxine; Zebrafish; Biology; Epilepsy; Pyridoxal; Population; Endocrinology; Internal medicine; Pharmacology; Genetics; Medicine; Neuroscience; Biochemistry; Gene","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0001029835,0.0006906813,0.000273645,0.0006197495,0.0002464287,0.0001900103,0.0002474225,0.0005650179,0.001899795],"category_scores_gemma":[0.00009497102,0.0002195798,0.0003911747,0.0001494356,0.0004016328,0.0002120139,0.0003963231,0.0006859109,0.0004767219],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006262757,"about_ca_system_score_gemma":0.0003263987,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00441438,"about_ca_topic_score_gemma":0.006923944,"domain_scores_codex":[0.9998673,0.000008278298,0.00001563335,0.00003803441,0.00004774001,0.00002294181],"domain_scores_gemma":[0.9998733,0.00001287776,0.00005729611,0.000007858635,0.00001572399,0.00003291036],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00003662798,0.00000596887,0.0001450999,0.00003430693,0.000004878549,0.0002531581,0.00001405267,0.00004244226,0.9989427,0.00006080199,0.00004200228,0.0004179551],"study_design_scores_gemma":[0.00003963076,0.000322203,0.01323751,0.0000285375,0.00005751187,0.001578674,0.00009831876,0.001292679,0.9796405,0.0001565559,0.003521219,0.00002674329],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.987974,0.001552874,0.004795634,0.0003777995,0.00008597437,0.00007230915,0.002093644,0.0003141706,0.002733545],"genre_scores_gemma":[0.9832171,0.001326463,0.004075065,0.0001778178,0.00001009503,0.0001115213,0.001158266,0.00009238811,0.009831275],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00441438,"threshold_uncertainty_score":0.00877738,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009449015968794147,"score_gpt":0.2526423040807564,"score_spread":0.2431932881119623,"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."}}