{"id":"W2233837568","doi":"10.1212/nxg.0000000000000009","title":"Loss-of-function mutations in <i>RAB39B</i> are associated with typical early-onset Parkinson disease","year":2015,"lang":"en","type":"article","venue":"Neurology Genetics","topic":"Cellular transport and secretion","field":"Biochemistry, Genetics and Molecular Biology","cited_by":93,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institute on Aging; H. Lundbeck A/S; Medical Research Council; Fondation Roger de Spoelberch; Parkinson Vereniging; Université de Bordeaux; Eberhard Karls Universität Tübingen; Institut National de la Santé et de la Recherche Médicale; GlaxoSmithKline; Deutsches Zentrum für Neurodegenerative Erkrankungen; Centre Hospitalier Universitaire de Bordeaux; Association France Parkinson; Agence Nationale de la Recherche; Centre National de la Recherche Scientifique; Valeant Pharmaceuticals International; FONDATION ALZHEIMER; Michael J. Fox Foundation for Parkinson's Research; Teva Pharmaceutical Industries; National Institutes of Health; U.S. Department of Health and Human Services","keywords":"Missense mutation; Loss function; Rab; Mutation; Genetics; Biology; Guanosine; Gene; Intellectual disability; GTPase; Phenotype","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002573836,0.001832767,0.000545934,0.001070175,0.000687667,0.0004740452,0.0005991394,0.001003741,0.004393809],"category_scores_gemma":[0.0008789691,0.0003267119,0.0003160537,0.000573372,0.0009333875,0.0002789534,0.0005636904,0.0006533761,0.001553296],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002372943,"about_ca_system_score_gemma":0.0001948358,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001307584,"about_ca_topic_score_gemma":0.001547759,"domain_scores_codex":[0.9997335,0.00003272625,0.0000398064,0.00007744992,0.00008012479,0.00003642245],"domain_scores_gemma":[0.9994673,0.0001365021,0.0001768312,0.00003758848,0.00004886274,0.0001328935],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.001594314,0.000493978,0.08251891,0.0003195082,0.0002783634,0.4810297,0.001343029,0.0004776024,0.4001794,0.001143576,0.006499347,0.02412236],"study_design_scores_gemma":[0.0001342182,0.0007218147,0.3327157,0.00008755876,0.0002052256,0.6199965,0.0002644411,0.0007346791,0.03277531,0.0005743818,0.01171615,0.00007392852],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.991232,0.0006871804,0.002126287,0.0003415721,0.00006742011,0.0000598792,0.0008638664,0.0002142018,0.004407526],"genre_scores_gemma":[0.9957189,0.0003672749,0.001147964,0.0001704505,0.0001006983,0.00002074471,0.0005119597,0.00007368076,0.001888329],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004393809,"threshold_uncertainty_score":0.0146988,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01479670624108142,"score_gpt":0.2219417735777629,"score_spread":0.2071450673366815,"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."}}