{"id":"W3126424180","doi":"10.1007/s10072-021-05117-1","title":"A novel SACS p.Pro4154GlnfsTer20 mutation in a family with autosomal recessive spastic ataxia of Charlevoix-Saguenay","year":2021,"lang":"en","type":"article","venue":"Neurological Sciences","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":5,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"","keywords":"Ataxia; Neuroradiology; Neurology; Mutation; Genetics; Neurosurgery; Medicine; Spastic; Biology; Neuroscience; Physical medicine and rehabilitation; Gene; Surgery; Cerebral palsy","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":[0.00017162,0.0002066256,0.0002758341,0.0001204324,0.0001598153,0.00008810851,0.0004816897,0.00006216016,0.00005896445],"category_scores_gemma":[0.001949831,0.0001422204,0.00005487682,0.001515359,0.0009666592,0.0002240727,0.0001664572,0.0001959809,0.00001593816],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000009819149,"about_ca_system_score_gemma":0.0002291982,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000192438,"about_ca_topic_score_gemma":0.0001045517,"domain_scores_codex":[0.9970668,0.0003820734,0.00035285,0.001027399,0.0007280669,0.0004428237],"domain_scores_gemma":[0.9987296,0.0006298041,0.0001960102,0.0002235497,0.00009307689,0.0001279701],"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":[0.00009458861,0.000334394,0.02940147,0.00001379933,0.00000114188,0.0003467044,0.00009807581,0.005868242,0.9624625,0.0006338949,0.00001761873,0.0007275763],"study_design_scores_gemma":[0.0006830269,0.001610131,0.3815094,0.0000281663,0.00001123467,0.0001369237,0.00007999806,0.004623971,0.6106263,0.0004357357,0.00004802943,0.0002070962],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9967777,0.00006682453,0.0005917866,0.0008988972,0.0001381648,0.0002545337,0.00002736702,0.00004162365,0.001203125],"genre_scores_gemma":[0.9967263,0.00001862603,0.0007598379,0.002350038,0.00002892915,0.00004012478,0.000001753516,0.000008822209,0.00006551563],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.352108,"threshold_uncertainty_score":0.579958,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05116786514415046,"score_gpt":0.279140276578655,"score_spread":0.2279724114345046,"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."}}