{"id":"W2085124069","doi":"10.1086/420700","title":"Fragile-X–Associated Tremor/Ataxia Syndrome (FXTAS) in Females with the FMR1 Premutation","year":2004,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":326,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of British Columbia","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Neurological Disorders and Stroke","keywords":"FMR1; Ataxia; Fragile X syndrome; Dementia; Intention tremor; Pediatrics; Fragile x; Medicine; Audiology; Psychology; Psychiatry; Internal medicine; Biology; Genetics; Disease","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":[0.0001593743,0.0008625856,0.0003794309,0.001448068,0.0008130958,0.000318543,0.0003529903,0.001091777,0.00724813],"category_scores_gemma":[0.0005567751,0.0003305644,0.0004273232,0.0004239086,0.0006044164,0.0003274987,0.0004039936,0.0005344577,0.0008679735],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002207145,"about_ca_system_score_gemma":0.0002892276,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001953568,"about_ca_topic_score_gemma":0.002192235,"domain_scores_codex":[0.9997812,0.00002665883,0.00002157928,0.00007778806,0.00003656808,0.00005618268],"domain_scores_gemma":[0.9996585,0.00007772163,0.0001429228,0.00001724497,0.00001510593,0.00008857064],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.00236298,0.0004094322,0.127837,0.00008401488,0.0001545494,0.4761536,0.0007066,0.0002576943,0.3645604,0.001056854,0.001940629,0.02447626],"study_design_scores_gemma":[0.0001534112,0.0009771727,0.1964751,0.00002497697,0.000196076,0.7632161,0.0002986062,0.0005669676,0.03515977,0.0004077473,0.002480152,0.0000438202],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9954726,0.000309093,0.0005571336,0.000295471,0.00003419356,0.00001711581,0.0003579201,0.00007931861,0.002877192],"genre_scores_gemma":[0.9978344,0.0001353125,0.0003482833,0.00006639703,0.00004829575,0.000008035877,0.0001601462,0.00002474448,0.001374533],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00724813,"threshold_uncertainty_score":0.02424741,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01049944308780983,"score_gpt":0.2424514909357849,"score_spread":0.2319520478479751,"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."}}