{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001033368,0.0001003947,0.0002212906,0.00005584317,0.00004252381,0.00002520256,0.00008371958,0.000144669,0.00002564435],"category_scores_gemma":[0.0007858025,0.00008335878,0.00007385275,0.00006480767,0.00004282027,0.00001128036,0.00004995862,0.0001726883,0.00002632854],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00000754543,"about_ca_system_score_gemma":0.0002567011,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000002052349,"about_ca_topic_score_gemma":0.00001962378,"domain_scores_codex":[0.9984273,0.0002707582,0.0007962031,0.0002155163,0.0001741006,0.0001161668],"domain_scores_gemma":[0.9990279,0.0000685194,0.0003408818,0.0001349054,0.0001860237,0.0002417784],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0008046145,0.0001168741,0.09603082,0.00002381325,0.00008789368,0.00002954398,0.0002262624,0.0008704619,0.8865747,0.0008336674,0.005527279,0.008874011],"study_design_scores_gemma":[0.003543354,0.005677439,0.5940236,0.00007003947,0.00009846799,0.0004447332,0.00009957075,0.0006504767,0.194511,0.0003696442,0.2000097,0.0005019835],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9922354,0.00003051301,0.00405503,0.0009234218,0.002521576,0.000125325,0.000002020465,0.000003326571,0.0001034239],"genre_scores_gemma":[0.9866147,0.00005176652,0.00927609,0.002165375,0.001223417,0.00000262221,0.00002667259,0.0000146631,0.0006247178],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6920638,"threshold_uncertainty_score":0.3399272,"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."}}