{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0009930218,0.0005773123,0.0006895159,0.0004555241,0.002676734,0.001142218,0.001471695,0.02423832,0.004240115],"category_scores_gemma":[0.008088965,0.0005343573,0.0005446263,0.0004943417,0.001453814,0.001541281,0.0007048179,0.0167082,0.003944172],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002105201,"about_ca_system_score_gemma":0.001601933,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.008495206,"about_ca_topic_score_gemma":0.01020628,"domain_scores_codex":[0.9994678,0.000136075,0.00008194094,0.00009439506,0.0001081253,0.0001115552],"domain_scores_gemma":[0.9978694,0.001148357,0.0001402731,0.00008660895,0.0004656951,0.0002896628],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0001112191,0.00005213573,0.002594042,0.00004999849,0.00002040244,0.02261007,0.000424325,0.0001114029,0.0005755867,0.001919657,0.9655246,0.006006615],"study_design_scores_gemma":[0.0002946212,0.0001926824,0.01243189,0.000515416,0.0001177343,0.06469116,0.00258929,0.002274715,0.00162728,0.01820706,0.8968123,0.0002460026],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"commentary","genre_gemma":"commentary","genre_scores_codex":[0.003150599,0.0008502445,0.0001330083,0.9810589,0.01095481,0.00001491885,0.00009485976,0.00004348948,0.003699064],"genre_scores_gemma":[0.03332057,0.001487907,0.0005266448,0.9305509,0.01985398,0.00005925351,0.0001043763,0.00004768706,0.01404869],"genre_candidate":"commentary","genre_consensus":"commentary","teacher_disagreement_score":0.02423832,"threshold_uncertainty_score":0.01689154,"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."}}