{"id":"W4400209586","doi":"10.1002/mds.29915","title":"Reduced Age‐Dependent Penetrance of a Large <scp> <i>FGF14</i> GAA </scp> Repeat Expansion in a 74‐Year‐Old Woman from a German Family with <scp>SCA27B</scp>","year":2024,"lang":"en","type":"letter","venue":"Movement Disorders","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":6,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre de réadaptation Lethbridge-Layton-Mackay; McGill University; Montreal Neurological Institute and Hospital","funders":"Canadian Institutes of Health Research; Deutsche Forschungsgemeinschaft","keywords":"Penetrance; Ataxia; Spinocerebellar ataxia; Genetics; Trinucleotide repeat expansion; Medicine; Allele; Pediatrics; Biology; Phenotype; Psychiatry; Gene","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":["metaepi_narrow"],"category_scores_codex":[0.0002733072,0.001365149,0.001236135,0.0007660171,0.0001966421,0.0003050407,0.001422032,0.0005348612,0.00004969968],"category_scores_gemma":[0.0004327617,0.001287635,0.0004546311,0.0009578274,0.0003125088,0.0002452214,0.0005187315,0.001875428,0.0001307057],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001924798,"about_ca_system_score_gemma":0.0002963564,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007102769,"about_ca_topic_score_gemma":0.001064249,"domain_scores_codex":[0.9907662,0.0007495121,0.001253174,0.003152747,0.002382091,0.001696322],"domain_scores_gemma":[0.9963528,0.0007327501,0.0006539017,0.001908438,0.00008933599,0.0002627801],"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":[0.00003417956,0.0007933424,0.002247767,0.0005468192,0.0001061813,0.001777534,0.002604657,0.0004819063,0.4751358,0.00005419569,0.5160923,0.0001253309],"study_design_scores_gemma":[0.008635151,0.001558992,0.03374571,0.002334039,0.0006338028,0.000005803103,0.003309004,0.0005635018,0.7750672,0.007514824,0.1654593,0.001172688],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9779062,0.001508455,0.0001081648,0.01257515,0.0009082024,0.002503033,0.002042112,0.0002335337,0.002215179],"genre_scores_gemma":[0.5461808,0.00140392,0.0001498944,0.440481,0.0005003897,0.001052327,0.0007406058,0.0004841728,0.009006854],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4317254,"threshold_uncertainty_score":0.9999099,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01492736375020114,"score_gpt":0.2475086193135246,"score_spread":0.2325812555633234,"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."}}