{"id":"W2936477178","doi":"10.1172/jci79990","title":"ATP6AP2 variant impairs CNS development and neuronal survival to cause fulminant neurodegeneration","year":2019,"lang":"en","type":"article","venue":"Journal of Clinical Investigation","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":58,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; University of Toronto; SickKids Foundation; Mount Sinai Hospital","funders":"NIH Clinical Center; Japan Science and Technology Agency; National Institutes of Health; National Institute of Neurological Disorders and Stroke; Tohoku Medical and Pharmaceutical University; Universität des Saarlandes; Centre National de la Recherche Scientifique; Agence Nationale de la Recherche; Universität Zürich; Eunice Kennedy Shriver National Institute of Child Health and Human Development; European Commission; Fondation pour la Recherche Médicale; Institut National de la Santé et de la Recherche Médicale","keywords":"Neurodegeneration; Fulminant; Biology; Medicine; Neuroscience; Bioinformatics; Immunology; Pathology; Disease","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":[0.0001239743,0.0006476543,0.0002810867,0.0003258699,0.0001667938,0.0001492644,0.0002874156,0.0005483342,0.001757585],"category_scores_gemma":[0.0001720873,0.0001164427,0.0002340595,0.0001638267,0.0003783876,0.0001435266,0.0002336615,0.0006196538,0.000292233],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002268445,"about_ca_system_score_gemma":0.0001832558,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003820848,"about_ca_topic_score_gemma":0.00046609,"domain_scores_codex":[0.9998755,0.0000221667,0.00001858278,0.00003445164,0.00002867331,0.00002049768],"domain_scores_gemma":[0.9998641,0.00002947839,0.00002967194,0.0000134169,0.00001010976,0.0000532039],"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":[0.000593693,0.0001565753,0.001823174,0.00005067115,0.00004040133,0.00904893,0.00004505887,0.0001906942,0.9839361,0.0003019369,0.0001958982,0.00361691],"study_design_scores_gemma":[0.0002204758,0.002594617,0.03579952,0.00002969083,0.0001335097,0.06547026,0.0001200186,0.003231422,0.8852592,0.0004768999,0.006636524,0.00002792129],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9966731,0.0005498314,0.001402438,0.0001041383,0.00003643834,0.00002531691,0.0003345239,0.00008528516,0.0007889315],"genre_scores_gemma":[0.9978218,0.0001978453,0.000597359,0.00004923096,0.000008200958,0.0000187205,0.0002766764,0.00001908794,0.001011019],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001757585,"threshold_uncertainty_score":0.00587976,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05871442356348087,"score_gpt":0.3302542100886394,"score_spread":0.2715397865251585,"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."}}