{"id":"W2761972984","doi":"10.1101/198069","title":"<i>ZMPSTE24</i> Missense Mutations that Cause Progeroid Diseases Decrease Prelamin A Cleavage Activity and/or Protein Stability","year":2017,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Nuclear Structure and Function","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institutes of Health; Ministero dello Sviluppo Economico; Fundação de Amparo à Pesquisa do Estado de São Paulo; Ontario Ministry of Economic Development and Innovation; Medical Research Council; European Federation of Pharmaceutical Industries and Associations; Genome Canada; Wellcome Trust; GlaxoSmithKline; Pfizer; Eli Lilly and Company","keywords":"Biology; Progeria; Lamin; Missense mutation; LMNA; Cell biology; Ubiquitin ligase; Biochemistry; Ubiquitin; Mutation; Molecular biology; Gene","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0002617534,0.0005578225,0.0004311581,0.00007869112,0.0003927397,0.0003061028,0.000350435,0.0006357979,0.00002469347],"category_scores_gemma":[0.0008176905,0.0005234991,0.0001637131,0.00007974217,0.0003167645,0.00002952079,0.0005788655,0.0004687452,0.000008182253],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000774774,"about_ca_system_score_gemma":0.0007634737,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00008359402,"about_ca_topic_score_gemma":0.00003685178,"domain_scores_codex":[0.9975418,0.0002198678,0.000276426,0.001261831,0.0002630056,0.0004370992],"domain_scores_gemma":[0.9969072,0.00002518551,0.0004460519,0.001901234,0.0002357095,0.0004846416],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0006566453,0.0002381843,0.006549095,0.0004912259,0.0002144677,0.00008473178,0.00001293255,0.00000276156,0.9914382,0.00002500135,0.000263418,0.00002338984],"study_design_scores_gemma":[0.0007309619,0.0002220094,0.1511802,0.0001830061,0.000282677,2.80655e-7,0.000007825981,0.00004825252,0.8435098,0.00000503849,0.003071417,0.000758478],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9960768,0.000753011,0.0003187658,0.0001332787,0.0004047783,0.001561844,0.0006095357,0.0001322898,0.000009648968],"genre_scores_gemma":[0.9976295,0.0001653115,0.001204109,0.00008089931,0.0004398025,0.0003375383,0.000005327509,0.0001152333,0.00002224358],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1479283,"threshold_uncertainty_score":0.9997216,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01790428788031346,"score_gpt":0.2336985956395309,"score_spread":0.2157943077592175,"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."}}