{"id":"W2042054806","doi":"10.1016/j.neulet.2006.02.066","title":"Genetic analysis of the GABRA1 gene in patients with essential tremor","year":2006,"lang":"en","type":"article","venue":"Neuroscience Letters","topic":"Neurological disorders and treatments","field":"Medicine","cited_by":56,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"National Institute of Neurological Disorders and Stroke; National Institute on Aging; McGill University Health Centre","keywords":"Missense mutation; Essential tremor; Exon; Genetics; Nonsense mutation; Biology; Mutation; Allele; Gene; Medicine; Internal medicine; Endocrinology; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00001831324,0.00007930343,0.0001590761,0.0001250649,0.00003740874,0.000008153842,0.0001099047,0.00001551697,0.00001045601],"category_scores_gemma":[0.00001361174,0.00004267828,0.00007473276,0.001156587,0.0001888724,0.00002842035,0.00002463182,0.00006131444,7.526768e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001040879,"about_ca_system_score_gemma":0.00000986485,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00009433612,"about_ca_topic_score_gemma":0.00002781867,"domain_scores_codex":[0.9991093,0.0000298034,0.000135761,0.0002506053,0.000307214,0.0001672821],"domain_scores_gemma":[0.9996654,0.00001220507,0.00006174963,0.0002210964,0.00001317258,0.00002635597],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0000470995,0.0003033381,0.967496,0.000001907637,0.000007374218,0.00002490975,0.00000580314,0.001732937,0.03021999,0.000002295384,0.00005297063,0.0001053572],"study_design_scores_gemma":[0.0009544246,0.0001525177,0.996544,0.000002658556,0.0001908639,5.508055e-7,5.693354e-7,0.0003891659,0.001707266,0.00000722817,0.00001232629,0.0000384073],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.997884,0.000003937656,0.00005507537,0.001732138,0.00005888966,0.0001925718,0.000005285232,0.00000685647,0.00006118186],"genre_scores_gemma":[0.9925209,8.735419e-7,0.00006237411,0.007373009,0.000007504706,0.000004236692,0.000002478832,0.00000452244,0.00002408806],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02904801,"threshold_uncertainty_score":0.174037,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005114085281094539,"score_gpt":0.2039172191209787,"score_spread":0.1988031338398842,"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."}}