{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001042067,0.0004607409,0.0002045631,0.0007507274,0.000655852,0.0003569245,0.0002833577,0.0003842934,0.002211016],"category_scores_gemma":[0.0003017866,0.0001861029,0.000174038,0.0007909377,0.0002518911,0.00009020569,0.0003961161,0.0002686616,0.0003507284],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002131525,"about_ca_system_score_gemma":0.001514551,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.1389797,"about_ca_topic_score_gemma":0.2855141,"domain_scores_codex":[0.9999223,0.000005973253,0.00001115406,0.00002297736,0.00002045292,0.00001704779],"domain_scores_gemma":[0.9998671,0.00001768298,0.0000201025,0.000006882061,0.00004510034,0.00004311622],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0008119682,0.0001864746,0.5386702,0.0002129979,0.0002742734,0.08966302,0.001616568,0.001376293,0.2842341,0.001425644,0.004818297,0.07671026],"study_design_scores_gemma":[0.0001245392,0.000141862,0.9066758,0.0001581359,0.000233117,0.04616848,0.0007456023,0.001857044,0.0219283,0.0009811914,0.02090619,0.00007979773],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9938428,0.001596343,0.0003189296,0.0002817154,0.00002278871,0.00002284622,0.000871587,0.00003088845,0.003012173],"genre_scores_gemma":[0.9931967,0.001359854,0.0007011853,0.0002065964,0.00001078347,0.00001392955,0.001026303,0.00001457284,0.003470164],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1389797,"threshold_uncertainty_score":0.2763414,"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."}}