{"id":"W4282027745","doi":"10.3390/genes13060963","title":"Multisystem Proteinopathy Due to VCP Mutations: A Review of Clinical Heterogeneity and Genetic Diagnosis","year":2022,"lang":"en","type":"review","venue":"Genes","topic":"Endoplasmic Reticulum Stress and Disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":55,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université Laval; University of Calgary","funders":"National Center for Advancing Translational Sciences","keywords":"Amyotrophic lateral sclerosis; Frontotemporal dementia; Phenotype; Disease; Biology; Medicine; Dementia; Stress granule; Genetic heterogeneity; Parkinsonism; Gene; Genetics; Neuroscience; Bioinformatics; Pathology","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0006121703,0.0009165709,0.001642203,0.00497254,0.0002619961,0.0007490905,0.0008247335,0.0009449846,0.002721608],"category_scores_gemma":[0.001442512,0.0003089748,0.0005826942,0.003641739,0.0004514244,0.001537611,0.0006303749,0.00149584,0.001205159],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005799386,"about_ca_system_score_gemma":0.0009308494,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001093956,"about_ca_topic_score_gemma":0.001639087,"domain_scores_codex":[0.9997674,0.00004177072,0.0000614247,0.00004523277,0.00006511927,0.00001918685],"domain_scores_gemma":[0.9992855,0.0004425373,0.00007613074,0.00001511159,0.0001266045,0.00005409372],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00007100953,0.00004819844,0.0006040895,0.01960011,0.0001640857,0.001246579,0.0001028627,0.0003233444,0.000925009,0.002283408,0.047109,0.9275224],"study_design_scores_gemma":[0.00002528113,0.0001017276,0.002743563,0.01137055,0.0003670174,0.01744578,0.0001300792,0.0001366192,0.0003162907,0.002172741,0.9651496,0.00004054653],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0001178919,0.9987229,0.0001412108,0.0002884043,0.0002004059,0.000003425775,0.00002253447,0.000008564973,0.0004947146],"genre_scores_gemma":[0.0008235768,0.9978819,0.0003312408,0.0003061295,0.0003279106,0.000006698991,0.00006238942,0.00000291111,0.0002572132],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.00497254,"threshold_uncertainty_score":0.009104669,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06487037724782396,"score_gpt":0.3926920109540454,"score_spread":0.3278216337062214,"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."}}