{"id":"W3079382483","doi":"10.1002/ana.25879","title":"Loss‐of‐Function Variants in <scp>HOPS</scp> Complex Genes <scp><i>VPS16</i></scp> and <scp><i>VPS41</i></scp> Cause Early Onset Dystonia Associated with Lysosomal Abnormalities","year":2020,"lang":"en","type":"article","venue":"Annals of Neurology","topic":"Autophagy in Disease and Therapy","field":"Medicine","cited_by":110,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Medical Research Council; Universität Innsbruck; Ministry of Education – Kingdom of Saudi Arabi; Medizinische Universität Innsbruck; Vedecká Grantová Agentúra MŠVVaŠ SR a SAV; Medical Research Council Canada; Technische Universität München; Agentúra na Podporu Výskumu a Vývoja; Helmholtz Zentrum München; National Institute for Health and Care Research; Fonds Psychische Gezondheid; Dystonia Medical Research Foundation; ZonMw; Department of Health and Aged Care, Australian Government; Rosetrees Trust; European Commission; National Health and Medical Research Council; Academy of Medical Sciences; Cancer Research UK; Else Kröner-Fresenius-Stiftung; European Social Fund; Univerzita Karlova v Praze; Wellcome Trust","keywords":"Dystonia; Loss function; Phenotype; Exome sequencing; Gene; Compound heterozygosity; Medicine; Biology; Genetics; Neuroscience","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":[0.0001674591,0.0006673402,0.0002787808,0.0007060425,0.000335167,0.0002886986,0.0002388779,0.000354595,0.003512692],"category_scores_gemma":[0.0005737132,0.0001584241,0.0002727211,0.0004775003,0.000261265,0.0001415105,0.0004050682,0.0002268854,0.0004317276],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001762725,"about_ca_system_score_gemma":0.0001369913,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00111008,"about_ca_topic_score_gemma":0.001717023,"domain_scores_codex":[0.9998612,0.00001431049,0.00002316928,0.00005695406,0.00002446062,0.00001987471],"domain_scores_gemma":[0.9998098,0.00005310399,0.00007319955,0.00001714524,0.00002020467,0.00002655388],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001053859,0.0001249698,0.6869518,0.0002759837,0.0005358187,0.03614606,0.0009444117,0.000852366,0.2563045,0.0002968813,0.000668219,0.01584506],"study_design_scores_gemma":[0.0000741795,0.0002656871,0.9021162,0.00005855286,0.0003376149,0.05980617,0.0003266578,0.001103024,0.03349504,0.0002926498,0.002101346,0.00002283],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9986755,0.0001398659,0.0003797768,0.00001737115,0.000002309496,0.00001430257,0.0004569037,0.00001049571,0.0003034517],"genre_scores_gemma":[0.9986731,0.00009167317,0.0004426838,0.00002091552,0.000004781411,0.000008753612,0.0004576051,0.000007489532,0.0002930651],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003512692,"threshold_uncertainty_score":0.01175112,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04941958616020292,"score_gpt":0.2791824880370186,"score_spread":0.2297629018768157,"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."}}