{"id":"W3087991908","doi":"10.1093/hmg/ddaa202","title":"A novel mouse model for pyridoxine-dependent epilepsy due to antiquitin deficiency","year":2020,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":34,"is_retracted":false,"has_abstract":true,"ca_institutions":"BC Children's Hospital; University of British Columbia","funders":"Canadian Institutes of Health Research; University of British Columbia; BC Children's Hospital","keywords":"Oxidative stress; Epilepsy; Lysine; Pipecolic acid; Internal medicine; Pharmacology; Endocrinology; Medicine; Biology; Amino acid; Biochemistry; Neuroscience","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":[0.0007569391,0.00248113,0.001333542,0.002631238,0.001072483,0.0009374401,0.001577153,0.003689448,0.008269678],"category_scores_gemma":[0.0003770192,0.001077008,0.001365776,0.001015183,0.001265653,0.001411851,0.0009451363,0.004055807,0.00290911],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000974015,"about_ca_system_score_gemma":0.0006660777,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001135741,"about_ca_topic_score_gemma":0.002018466,"domain_scores_codex":[0.9987819,0.0001340623,0.0002174961,0.0004255103,0.0002331055,0.0002078642],"domain_scores_gemma":[0.99911,0.0001184327,0.0002554347,0.0001022781,0.0001059083,0.0003078916],"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":[0.00120466,0.001067373,0.0005007683,0.0002549709,0.00009001244,0.001370374,0.0001909318,0.0002178872,0.9888755,0.001876123,0.000780191,0.003571217],"study_design_scores_gemma":[0.001682663,0.006154915,0.01026077,0.0003323011,0.0005847888,0.01069573,0.000544293,0.006019316,0.9091142,0.002092866,0.05236099,0.000157142],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9292864,0.005375748,0.03762338,0.002838397,0.001314498,0.001336391,0.01166369,0.002599539,0.007961974],"genre_scores_gemma":[0.8725395,0.007518457,0.03305415,0.001641017,0.000274544,0.004114582,0.01443438,0.001147664,0.06527565],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.008269678,"threshold_uncertainty_score":0.02766478,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02592893942046096,"score_gpt":0.2730076145651924,"score_spread":0.2470786751447314,"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."}}