{"id":"W3136859257","doi":"10.1016/j.ymgme.2021.03.010","title":"MTP deficiency caused by HADHB mutations: Pathophysiology and clinical manifestations","year":2021,"lang":"en","type":"review","venue":"Molecular Genetics and Metabolism","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":32,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University","funders":"Muscular Dystrophy Canada","keywords":"Pathophysiology; Phenotype; Rhabdomyolysis; Medicine; Metabolic disorder; Bioinformatics; Internal medicine; Biology; Gene; Genetics","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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0001401192,0.000472056,0.001143189,0.000131987,0.0002113221,0.0001426569,0.0002466066,0.0002319949,0.00001868954],"category_scores_gemma":[0.0006946367,0.0004337323,0.0003074979,0.0003190721,0.0003966421,0.00002632139,0.0002646211,0.0003043331,0.0000140979],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000007804466,"about_ca_system_score_gemma":0.0002965389,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000003525083,"about_ca_topic_score_gemma":0.00000140999,"domain_scores_codex":[0.9960895,0.0013098,0.0007458864,0.001224734,0.0002633162,0.0003667515],"domain_scores_gemma":[0.9984446,0.000358506,0.000291116,0.0005282752,0.00009585393,0.0002816053],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.000001588946,0.0003532661,0.000006344066,0.001157874,0.00007815586,0.0005376475,0.00007061846,0.00001405662,0.03077904,0.004264454,0.0005539008,0.9621831],"study_design_scores_gemma":[0.000556237,0.0001059165,0.0002492072,0.0003648529,0.002593343,0.000147056,0.00002472701,0.00006459099,0.00752338,0.001349276,0.9861165,0.0009049415],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.024886,0.9728799,0.000647877,0.00003717259,0.0004076958,0.0006505224,0.0003993268,0.00002442902,0.0000670927],"genre_scores_gemma":[0.001045979,0.9969535,0.0007350448,0.0007313767,0.00006699555,0.0001254985,0.000154956,0.00007662985,0.0001099616],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9855626,"threshold_uncertainty_score":0.9998115,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05440303524537794,"score_gpt":0.363551215740225,"score_spread":0.3091481804948471,"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."}}