{"id":"W3114147460","doi":"10.3389/fgene.2020.585136","title":"Case Report: Expanding the Genetic and Phenotypic Spectrum of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay","year":2020,"lang":"en","type":"article","venue":"Frontiers in Genetics","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":12,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Phenotype; Genetics; Ataxia; Cerebellar ataxia; Genetic heterogeneity; Mutation; Spinocerebellar ataxia; Biology; Neuroscience; Gene","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00009381655,0.0002322153,0.0003712226,0.0001098401,0.00009693098,0.00002635652,0.000348946,0.00006253253,0.00002027217],"category_scores_gemma":[0.0008584275,0.0001969696,0.00007012996,0.0004766956,0.0005026381,0.00004290928,0.0002135406,0.0001764198,0.000001722622],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002023303,"about_ca_system_score_gemma":0.00009589633,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001498993,"about_ca_topic_score_gemma":0.00001383863,"domain_scores_codex":[0.997859,0.0002671148,0.0006138967,0.0005966004,0.0003370171,0.0003263565],"domain_scores_gemma":[0.9987882,0.0001487371,0.0004061118,0.0004553273,0.00004367626,0.0001579701],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0002508899,0.0002033164,0.2722909,0.0003919673,0.0000511248,0.01274675,0.005473915,0.01662371,0.6847091,0.0001126516,0.002661986,0.004483643],"study_design_scores_gemma":[0.0006342455,0.0002591038,0.02893569,0.00003564462,0.00008300218,0.001421986,0.0006090883,0.01316213,0.9538347,0.0006855968,0.00008396715,0.0002549073],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9876472,0.001893066,0.008919938,0.0004053404,0.0004921089,0.0004594429,0.00006839134,0.00001708878,0.00009737389],"genre_scores_gemma":[0.9954647,0.0003165066,0.00378245,0.0002247633,0.0001061253,0.00001795843,0.000002030482,0.00003469284,0.00005076672],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2691255,"threshold_uncertainty_score":0.8032187,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02663405024592709,"score_gpt":0.251367842228068,"score_spread":0.2247337919821409,"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."}}