{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0003228998,0.0003364759,0.001438404,0.00006126826,0.00007278873,0.00001486774,0.0002918023,0.0001868602,0.00005365688],"category_scores_gemma":[0.0006052241,0.0002836657,0.0006088217,0.0001490882,0.00007277127,0.000001675019,0.0003966633,0.0001143014,0.000009543076],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000118867,"about_ca_system_score_gemma":0.0002577622,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001999538,"about_ca_topic_score_gemma":0.00001493295,"domain_scores_codex":[0.9971275,0.000596657,0.001153413,0.0007015014,0.0002102708,0.0002106346],"domain_scores_gemma":[0.9984248,0.00009470073,0.0005040175,0.0006701876,0.00007164416,0.000234708],"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":[0.000007549179,0.00008985232,0.000655512,0.08282014,0.0001457626,0.00004948187,0.000003172715,0.000001612132,0.000008245697,0.000001930693,0.0004457062,0.915771],"study_design_scores_gemma":[0.0001726898,0.0002495022,0.0001757696,0.01491283,0.000646165,0.0001298329,0.000006169138,0.000001159341,0.0001355145,0.000001500194,0.983263,0.0003058825],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.004743061,0.992362,0.00003873436,0.00001771996,0.0002029953,0.002083717,0.0005052662,0.000008942105,0.00003760894],"genre_scores_gemma":[0.0001284338,0.9948455,0.0009213398,0.0001735339,0.0002106811,0.003224008,0.0004193496,0.00004651745,0.00003065402],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9828173,"threshold_uncertainty_score":0.9999616,"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."}}