{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003333728,0.001334241,0.002028976,0.002526799,0.0002269094,0.000973784,0.001108527,0.001321667,0.001892327],"category_scores_gemma":[0.0004830859,0.0002381706,0.0004570183,0.002390085,0.0005441435,0.0008966065,0.0006021698,0.001406995,0.001144955],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005445412,"about_ca_system_score_gemma":0.0007164321,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009544466,"about_ca_topic_score_gemma":0.001327108,"domain_scores_codex":[0.9998617,0.00001956147,0.00002892427,0.00003311298,0.00003926845,0.00001740907],"domain_scores_gemma":[0.9997981,0.00009589761,0.00003746604,0.000006442508,0.00003546382,0.00002666701],"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":[0.0001590098,0.00006504306,0.000536595,0.01188934,0.0001516355,0.004199638,0.00005238972,0.0005444846,0.003238843,0.002481316,0.03401545,0.9426663],"study_design_scores_gemma":[0.00006796066,0.0001036808,0.00347406,0.006018664,0.0005352029,0.05451842,0.0001282673,0.000329316,0.001521694,0.004832385,0.9283986,0.00007172608],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0001768415,0.9987335,0.0001646699,0.0001792669,0.0001077684,0.000002084662,0.00002081324,0.00000788282,0.0006070977],"genre_scores_gemma":[0.001438061,0.9972807,0.0002556195,0.0001747708,0.0003558276,0.000004462631,0.00005471071,0.000002071551,0.0004335665],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.002526799,"threshold_uncertainty_score":0.00633049,"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."}}