{"id":"W2112892628","doi":"10.1016/j.ajhg.2012.10.024","title":"Mutations in ANO3 Cause Dominant Craniocervical Dystonia: Ion Channel Implicated in Pathogenesis","year":2012,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Ion channel regulation and function","field":"Biochemistry, Genetics and Molecular Biology","cited_by":264,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre for Movement Disorders","funders":"Medical Research Council; Sir Halley Stewart Trust; University College London; Parkinson's UK; National Institute for Health and Care Research; Department of Health and Social Care; Wellcome Trust; GlaxoSmithKline; National Heart, Lung, and Blood Institute; Boehringer Ingelheim","keywords":"Dystonia; Exome sequencing; Genetics; Cervical dystonia; Biology; Candidate gene; Exome; Mutation; Gene; Neuroscience","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0001797296,0.0007376696,0.0005608751,0.000555047,0.0003991096,0.0003602167,0.0002791244,0.0009159013,0.001240352],"category_scores_gemma":[0.0005369513,0.0001504225,0.0004376697,0.0003937574,0.0003967387,0.0002289557,0.000573901,0.000351096,0.0002710636],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003015225,"about_ca_system_score_gemma":0.0002963532,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001599576,"about_ca_topic_score_gemma":0.003066606,"domain_scores_codex":[0.9998515,0.00001813697,0.0000200764,0.00003944573,0.00004184644,0.00002904662],"domain_scores_gemma":[0.9997252,0.00008605585,0.00009597909,0.00001684242,0.00002084519,0.00005510822],"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":[0.002393869,0.0001069228,0.07598582,0.0003540692,0.000234833,0.08750382,0.0007441432,0.0008205592,0.8104583,0.001012044,0.0006257342,0.01975986],"study_design_scores_gemma":[0.0004961421,0.0006908375,0.4695671,0.0002215643,0.0006617291,0.2705809,0.001083884,0.005184431,0.2343384,0.003209176,0.01380674,0.0001590579],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9947807,0.001204336,0.002299185,0.0001766065,0.00005057328,0.0000222534,0.000242251,0.0000477483,0.001176432],"genre_scores_gemma":[0.9965954,0.0007069517,0.001967192,0.00009158644,0.00001797314,0.00001186434,0.0001746141,0.00001696478,0.0004174513],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001599576,"threshold_uncertainty_score":0.004149377,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0191974063932203,"score_gpt":0.2840796132761633,"score_spread":0.2648822068829429,"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."}}