{"id":"W7112205255","doi":"","title":"GAA-FGF14 Expansions and CACNA1A Variants: Phenotypic Overlap and Diagnostic Implications.","year":2025,"lang":"en","type":"article","venue":"DZNE Pub","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Canadian Institutes of Health Research; Else Kröner-Fresenius-Stiftung; Deutsche Forschungsgemeinschaft; McGill University","keywords":"Spinocerebellar ataxia; Ataxia; Trinucleotide repeat expansion; Essential tremor; Phenotype; Movement disorders; Disease; Genetic testing","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005803303,0.0004064189,0.0003760803,0.001413533,0.0004075955,0.0004640297,0.0004742429,0.0007072072,0.003802005],"category_scores_gemma":[0.004151563,0.000295068,0.0002015227,0.0006856445,0.0005428406,0.0004285498,0.0006779336,0.0003009028,0.0004894055],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001645588,"about_ca_system_score_gemma":0.0002037694,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00128794,"about_ca_topic_score_gemma":0.001920227,"domain_scores_codex":[0.9994376,0.0001367813,0.00008090202,0.0001474935,0.0001186388,0.0000785493],"domain_scores_gemma":[0.9987048,0.0005278513,0.0004093951,0.00007275763,0.0001081896,0.0001768821],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002402177,0.00007456539,0.9633959,0.00002467343,0.00004773523,0.02125104,0.0005462797,0.00003927705,0.005915531,0.0001928923,0.0001808767,0.008090917],"study_design_scores_gemma":[0.00001948187,0.0001869741,0.8683572,0.0000370797,0.0000592159,0.1285112,0.0005852905,0.000411028,0.000876433,0.0002527151,0.0006930422,0.00001035806],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9981406,0.0003800707,0.0001401979,0.00007399631,0.000004243077,0.000005631294,0.0000624032,0.000004731243,0.001188066],"genre_scores_gemma":[0.9993883,0.0001176802,0.0002360993,0.0000331752,0.00001427543,0.000003730943,0.00009012821,0.00000229869,0.0001143113],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003802005,"threshold_uncertainty_score":0.01271898,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01797786719176832,"score_gpt":0.2707575952868598,"score_spread":0.2527797280950915,"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."}}