{"id":"W4385751774","doi":"10.1002/mds.29552","title":"<scp>Non‐GAA</scp> Repeat Expansions in <scp><i>FGF14</i></scp> Are Likely Not Pathogenic—Reply to: “<i>Shaking Up Ataxia</i>: <scp><i>FGF14</i></scp> and <scp><i>RFC1</i></scp> Repeat Expansions in Affected and Unaffected Members of a Chilean Family”","year":2023,"lang":"en","type":"letter","venue":"Movement Disorders","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":24,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre de réadaptation Lethbridge-Layton-Mackay; McGill University; Montreal Neurological Institute and Hospital","funders":"UCLH Biomedical Research Centre; Medical Research Council; Canadian Institutes of Health Research; Fondation de l'Hôpital Général de Montréal; University College London Hospitals NHS Foundation Trust; Bundesministerium für Bildung und Forschung; Deutsche Forschungsgemeinschaft; Génome Québec; Wellcome Trust","keywords":"Miami; Neurology; Medicine; Neurosurgery; Ataxia; Family medicine; Psychiatry","routes":{"ca_aff":true,"ca_fund":true,"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":["metaresearch","metaepi_narrow","research_integrity"],"consensus_categories":["metaepi_narrow","research_integrity"],"category_scores_codex":[0.001639319,0.004146296,0.004187978,0.004099853,0.00125234,0.0008419519,0.002929934,0.001804995,0.00002114145],"category_scores_gemma":[0.02167836,0.004497069,0.001225597,0.006580085,0.001474061,0.000922338,0.00318241,0.004629778,0.0001142168],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005659739,"about_ca_system_score_gemma":0.0007526993,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001907735,"about_ca_topic_score_gemma":0.003791083,"domain_scores_codex":[0.9753962,0.003388613,0.00400422,0.008000848,0.004034104,0.005175997],"domain_scores_gemma":[0.9783651,0.01237135,0.002701878,0.004451797,0.000515367,0.00159447],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00002439038,0.001064058,0.01929978,0.001348925,0.0002557529,0.001419561,0.007837342,0.001551265,0.4026176,0.00002865827,0.5640236,0.0005291],"study_design_scores_gemma":[0.01947477,0.003771765,0.3162366,0.007515648,0.001797942,0.00009283629,0.04359424,0.002336224,0.4130774,0.001657296,0.1881806,0.002264704],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9716936,0.002181062,0.0001158492,0.007435648,0.002581764,0.008746149,0.004845832,0.001008044,0.001392046],"genre_scores_gemma":[0.5203276,0.01163693,0.000776747,0.4451432,0.001238842,0.005612614,0.00316979,0.002392888,0.009701377],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4513659,"threshold_uncertainty_score":0.9994909,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02186832411807212,"score_gpt":0.2490163913882437,"score_spread":0.2271480672701716,"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."}}