{"id":"W2127861463","doi":"10.1038/ng.132","title":"TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis","year":2008,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Amyotrophic Lateral Sclerosis Research","field":"Medicine","cited_by":1526,"is_retracted":false,"has_abstract":false,"ca_institutions":"Université Laval; Hôpital de l'Enfant-Jésus; University of Waterloo; Université de Montréal; Centre Hospitalier de l’Université de Montréal","funders":"","keywords":"Amyotrophic lateral sclerosis; TARDBP; Biology; Missense mutation; Pathogenesis; Genetics; Mutation; SOD1; Pathology; Disease; Gene; Medicine; Immunology","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":[0.0005388901,0.001193336,0.0008996988,0.002838392,0.001651131,0.000758275,0.0006628181,0.001975245,0.003497768],"category_scores_gemma":[0.003788568,0.0006073753,0.0006449761,0.001440887,0.0008522259,0.0007223819,0.0007062965,0.0006328542,0.0004610454],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005005097,"about_ca_system_score_gemma":0.0003033972,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.006607314,"about_ca_topic_score_gemma":0.004684858,"domain_scores_codex":[0.9993758,0.0001076801,0.0001326723,0.0001700344,0.0001097842,0.000103965],"domain_scores_gemma":[0.9989208,0.0004360522,0.0002706198,0.00004989659,0.0001201007,0.0002024454],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.005797952,0.0002463588,0.9342108,0.00007638378,0.0003493586,0.03817021,0.001722223,0.0003676026,0.01129155,0.0002656161,0.0006187842,0.006883135],"study_design_scores_gemma":[0.0001552485,0.0004906357,0.9577712,0.00003270033,0.000287801,0.03810002,0.001056474,0.000618515,0.000634365,0.0004338888,0.0003772523,0.00004195064],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9991025,0.0001742736,0.00005430507,0.0000482279,0.00001417734,0.000004854456,0.0001098905,0.000008364017,0.0004834397],"genre_scores_gemma":[0.9994608,0.00005121466,0.00006442715,0.00003462995,0.00002157366,0.000004977848,0.0001021405,0.000005818368,0.0002544898],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006607314,"threshold_uncertainty_score":0.01313776,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02581237128837693,"score_gpt":0.275998133620191,"score_spread":0.2501857623318141,"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."}}