{"id":"W2732662477","doi":"10.1159/000477428","title":"A Novel Homozygous <b><i>SACS</i></b> Mutation Identified by Whole-Exome Sequencing in a Consanguineous Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay","year":2017,"lang":"en","type":"article","venue":"Cytogenetic and Genome Research","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Natural Science Foundation of China","keywords":"Frameshift mutation; Exome sequencing; Genetics; Biology; Ataxia; Mutation; Exome; Cerebellar ataxia; Disease gene identification; Gene; Neuroscience","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001309582,0.0006567859,0.0004154825,0.0006616962,0.0005750399,0.0003238089,0.0003237335,0.000920055,0.001811137],"category_scores_gemma":[0.0005248009,0.0002002635,0.0003478425,0.0005261034,0.00054617,0.0002001981,0.0003856772,0.0004207142,0.0002895162],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002916052,"about_ca_system_score_gemma":0.0003293649,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004622925,"about_ca_topic_score_gemma":0.007434736,"domain_scores_codex":[0.9998242,0.00001308449,0.0000209474,0.00007950505,0.00003465209,0.00002755498],"domain_scores_gemma":[0.9997547,0.00007338164,0.00005192122,0.00001291043,0.00001819838,0.00008881805],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0004992163,0.0001092022,0.04447572,0.0001340939,0.0001091408,0.74287,0.001356901,0.0006449535,0.1949431,0.001003859,0.001067971,0.01278583],"study_design_scores_gemma":[0.0001245821,0.0005979766,0.1707515,0.00008725007,0.0002536199,0.7699162,0.0006506447,0.003936678,0.04517909,0.000688819,0.007717384,0.00009628099],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9973356,0.0002367543,0.001161252,0.0001145092,0.00002472001,0.00002313444,0.00038056,0.00004272323,0.0006807346],"genre_scores_gemma":[0.9978957,0.000102193,0.001045239,0.00006432608,0.00001151888,0.000008399833,0.0002347607,0.00001214227,0.0006256855],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004622925,"threshold_uncertainty_score":0.00919205,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06767347500330087,"score_gpt":0.3181652614043096,"score_spread":0.2504917864010087,"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."}}