{"id":"W2119582096","doi":"10.1093/hmg/ddt570","title":"DNAJC13 mutations in Parkinson disease","year":2013,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Cellular transport and secretion","field":"Biochemistry, Genetics and Molecular Biology","cited_by":312,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Saskatchewan; Montreal Neurological Institute and Hospital; Saskatchewan Health Authority; McGill University; University of British Columbia","funders":"Canadian Institutes of Health Research; Fondation pour la Recherche sur Alzheimer; Canada Excellence Research Chairs, Government of Canada; Genome British Columbia; National Center for Research Resources; National Institute of Neurological Disorders and Stroke; Royal University Hospital Foundation; GlaxoSmithKline; Michael J. Fox Foundation for Parkinson's Research","keywords":"Biology; Endosome; Genetics; LRRK2; Mutation; Sanger sequencing; Haplotype; Vacuolar protein sorting; Parkin; Clathrin; Disease; Parkinson's disease; Endocytosis; Gene; Genotype; Receptor; Pathology; Medicine","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0000572967,0.0001527989,0.00009839076,0.00007125537,0.00006257046,0.00003637685,0.0001537513,0.0001009897,0.0001531232],"category_scores_gemma":[0.0000109325,0.0001729053,0.0000931653,0.00009257462,0.00006832963,0.000003156701,0.00003650023,0.00008027385,0.00005617643],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001173041,"about_ca_system_score_gemma":0.00003937796,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004026369,"about_ca_topic_score_gemma":0.00008416362,"domain_scores_codex":[0.9990187,0.0000448736,0.0002209505,0.0003271504,0.0001417829,0.0002464948],"domain_scores_gemma":[0.9993765,0.000002124578,0.00004181812,0.0003722969,0.00005827611,0.0001489767],"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":[0.000007669416,0.00007014867,0.03061151,0.0000119471,0.00001241111,0.0000255069,0.0000437801,0.0006164683,0.9677597,0.0002250384,0.00007938007,0.0005364666],"study_design_scores_gemma":[0.001016812,0.0001742554,0.8198437,0.00002291817,0.00004756207,0.00000493912,0.00007142025,0.0007709689,0.1048262,0.003315848,0.06933183,0.0005735631],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9860092,0.001473398,0.01112143,0.00008385721,0.00005202901,0.0003302021,0.000006513073,0.00001386373,0.0009095063],"genre_scores_gemma":[0.9961761,0.0001051815,0.0006204051,0.0002287589,0.00006894155,0.00007721335,0.002393492,0.00003383463,0.0002960839],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8629335,"threshold_uncertainty_score":0.7050873,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009421439428807648,"score_gpt":0.231462589220796,"score_spread":0.2220411497919883,"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."}}