{"id":"W7132695035","doi":"","title":"SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study.","year":2016,"lang":"en","type":"article","venue":"DZNE Pub","topic":"Nuclear Structure and Function","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Cerebellar ataxia; Ataxia; Mutation; Genetic testing; Phenotype; Exome sequencing","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":[0.0000915842,0.0002342175,0.0002007662,0.00003734984,0.0001538351,0.00003445558,0.0002150449,0.0001821359,0.00009802246],"category_scores_gemma":[0.00002246665,0.0001457708,0.00007158501,0.00009457664,0.00005046774,0.000009818385,0.0001465049,0.0001166902,0.0001036873],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002829134,"about_ca_system_score_gemma":0.00003674193,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00007742807,"about_ca_topic_score_gemma":0.0006422888,"domain_scores_codex":[0.9987637,0.00005531585,0.0001546967,0.0005033336,0.0001688141,0.0003541383],"domain_scores_gemma":[0.9990848,0.000008803282,0.0001131242,0.0005816764,0.00009735445,0.0001142264],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.002665857,0.001333676,0.2688241,0.000122454,0.001193156,0.0001796818,0.002193533,0.000001262411,0.5464928,0.0001221216,0.1539501,0.0229213],"study_design_scores_gemma":[0.01797277,0.002266265,0.2324511,0.0001979972,0.0003762256,0.0001616202,0.004517237,0.00002540604,0.1404231,0.00003021074,0.6001804,0.001397667],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9969581,0.000279344,0.0007315566,0.0004200728,0.0002109449,0.0004464641,0.0001704562,0.00003712828,0.0007459427],"genre_scores_gemma":[0.9926593,0.00003534806,0.0004986036,0.0004637492,0.0002569183,0.00001815307,0.0001061832,0.00004642057,0.005915318],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4462302,"threshold_uncertainty_score":0.594436,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005311648405029765,"score_gpt":0.2286779128354825,"score_spread":0.2233662644304527,"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."}}