{"id":"W1964268435","doi":"10.1038/ng.2496","title":"Mutations in GNAL cause primary torsion dystonia","year":2012,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Neurological disorders and treatments","field":"Medicine","cited_by":322,"is_retracted":false,"has_abstract":false,"ca_institutions":"Toronto Western Hospital","funders":"National Institute of Neurological Disorders and Stroke; Bachmann-Strauss Dystonia and Parkinson Foundation; National Heart, Lung, and Blood Institute; National Institute on Drug Abuse; Agence Nationale de la Recherche; Parkinsonfonden; Universidade de São Paulo","keywords":"Missense mutation; Nonsense mutation; Biology; Genetics; Gene; Dystonia; Exome sequencing; Nonsense; Mutation; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00003250777,0.00007483682,0.0001018611,0.00004679078,0.00002538756,0.000003429594,0.00002938932,0.0001867521,0.00005856279],"category_scores_gemma":[0.00002494871,0.00005535704,0.00003086627,0.0001161761,0.00002051199,0.00002078358,0.00002047657,0.0002882676,0.00003663018],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003458609,"about_ca_system_score_gemma":0.00002139272,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000002271125,"about_ca_topic_score_gemma":0.000005068396,"domain_scores_codex":[0.9994779,0.00001634073,0.00009021691,0.0001039108,0.0001338334,0.0001778079],"domain_scores_gemma":[0.9997338,0.00001817698,0.00001908129,0.0001161775,0.00002176599,0.00009101331],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00006343314,0.0006763902,0.9908671,0.00001993844,0.00002345367,0.00007384675,0.0001263729,0.00000592997,0.001848859,0.0001029054,0.00143421,0.004757509],"study_design_scores_gemma":[0.0009190088,0.0001632328,0.9923978,0.000009283993,0.0000576062,0.00001496735,0.000008957432,0.00001756014,0.001035748,0.000329174,0.004990412,0.00005618432],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9910597,0.005058196,0.00000864832,0.0004749697,0.0002075657,0.0001751435,0.00000562085,0.00001840149,0.002991761],"genre_scores_gemma":[0.995527,0.0001498455,0.001403889,0.002491539,0.00009304763,0.000007128586,0.00004936643,0.000008986169,0.0002691826],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004908351,"threshold_uncertainty_score":0.2257395,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01433732852689516,"score_gpt":0.2924636338920092,"score_spread":0.2781263053651141,"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."}}