{"id":"W2208395593","doi":"10.1017/cjn.2015.162","title":"Novel VCP mutation associated with CMT2 phenotype","year":2015,"lang":"en","type":"article","venue":"Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques","topic":"Hereditary Neurological Disorders","field":"Neuroscience","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Proband; Hereditary spastic paraplegia; Amyotrophic lateral sclerosis; Medicine; Phenotype; Exome sequencing; Frontotemporal dementia; Pathology; Mutation; Upper motor neuron; Genetics; Disease; Dementia; Biology; Gene","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":true,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaresearch","metaepi_narrow","sts"],"consensus_categories":["sts"],"category_scores_codex":[0.004658239,0.0005042934,0.000643457,0.001028224,0.002520908,0.000947858,0.002996551,0.0002827724,0.0001736508],"category_scores_gemma":[0.02230627,0.0003212295,0.0002168312,0.00292169,0.01031756,0.001993774,0.00009528626,0.001767032,0.00001635033],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003359512,"about_ca_system_score_gemma":0.005170372,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008962771,"about_ca_topic_score_gemma":0.04548078,"domain_scores_codex":[0.9926122,0.001716814,0.001056475,0.0009098398,0.001747643,0.001956962],"domain_scores_gemma":[0.992817,0.001625668,0.001144741,0.0002076714,0.0007274501,0.00347747],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"nonrandomized_trial","study_design_scores_codex":[0.001379408,0.0007555317,0.7536758,0.00001963457,0.00007391431,0.08512237,0.003468668,0.1229247,0.004076207,0.01183802,0.006633159,0.01003254],"study_design_scores_gemma":[0.005022751,0.4799676,0.2150393,0.0001803716,0.0002260298,0.1582491,0.001701591,0.0148596,0.002908587,0.1107861,0.00841653,0.002642328],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9853655,0.0002411556,0.0001942542,0.00535613,0.001201264,0.0002344721,0.00002419613,0.00006083317,0.007322199],"genre_scores_gemma":[0.989579,0.00005133264,0.001217055,0.008882699,0.0002063796,0.000002809139,5.447412e-7,0.00002421391,0.00003593983],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5386365,"threshold_uncertainty_score":0.999924,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.08021164441646865,"score_gpt":0.2756400687749248,"score_spread":0.1954284243584561,"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."}}