{"id":"W2001724476","doi":"10.1038/ejhg.2014.164","title":"VPS35 and DNAJC13 disease-causing variants in essential tremor","year":2014,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Neurological disorders and treatments","field":"Medicine","cited_by":31,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of British Columbia; University of Saskatchewan; Saskatchewan Health Authority","funders":"Canadian Institutes of Health Research; Vancouver Coastal Health Research Institute; National Institute of Neurological Disorders and Stroke; Royal University Hospital Foundation; Canada Excellence Research Chairs, Government of Canada; Mayo Clinic","keywords":"Haplotype; Vacuolar protein sorting; Genetics; Biology; LRRK2; Genotype; Disease; Genotyping; Gene; Mutation; Medicine; Pathology","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"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":[0.0005454755,0.001147194,0.0006711195,0.001903905,0.0007529071,0.0007260844,0.0007977331,0.002230444,0.006354725],"category_scores_gemma":[0.002410655,0.0002713025,0.0009117211,0.001372007,0.0006808222,0.000486982,0.0006050213,0.0006575202,0.0006029308],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004470905,"about_ca_system_score_gemma":0.0002864933,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002727766,"about_ca_topic_score_gemma":0.002552945,"domain_scores_codex":[0.9989867,0.000183282,0.0002225919,0.0002673021,0.0002226192,0.0001175552],"domain_scores_gemma":[0.9987532,0.0005549805,0.0003361286,0.00006398667,0.00009961712,0.0001920172],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.01192027,0.000484339,0.4541112,0.000635024,0.002656634,0.2048819,0.003034237,0.00429258,0.2220295,0.006302487,0.006430536,0.08322127],"study_design_scores_gemma":[0.000875883,0.00108743,0.7524521,0.0004850174,0.001972145,0.1964045,0.001100339,0.005630558,0.02070857,0.01011208,0.008967798,0.0002036262],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9921445,0.002944167,0.001168144,0.0004255352,0.0001096699,0.00001939114,0.0005998322,0.00007071432,0.002518027],"genre_scores_gemma":[0.9989905,0.0001277227,0.0003116637,0.00007733989,0.00003762713,0.0000025279,0.0001599448,0.00001191357,0.0002807611],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006354725,"threshold_uncertainty_score":0.02125865,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02498368603240343,"score_gpt":0.2686013020836149,"score_spread":0.2436176160512115,"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."}}