{"id":"W2596924828","doi":"10.1002/humu.23195","title":"Overstressed response to <i>EIF2S3</i> variants in MEHMO syndrome","year":2017,"lang":"en","type":"letter","venue":"Human Mutation","topic":"RNA modifications and cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre Hospitalier Universitaire Sainte-Justine; Université de Montréal","funders":"","keywords":"Biology; Integrated stress response; Translation (biology); Genetics; Microcephaly; Mutation; Context (archaeology); Unfolded protein response; Eukaryotic translation; Gene; Messenger RNA","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":[],"consensus_categories":[],"category_scores_codex":[0.0002381737,0.0001974767,0.0001831732,0.0001522574,0.0001516934,0.00009698273,0.0003352219,0.0004890355,0.00008349141],"category_scores_gemma":[0.00008980427,0.0002192647,0.00007281666,0.00005444456,0.0000429031,0.000006574341,0.00005818922,0.0002815873,0.00008376646],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00006838253,"about_ca_system_score_gemma":0.0001194779,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00007128341,"about_ca_topic_score_gemma":0.0000455531,"domain_scores_codex":[0.9987088,0.0001444382,0.0002351692,0.0004941848,0.0001799041,0.0002374447],"domain_scores_gemma":[0.9989154,0.00001328886,0.0001801676,0.0007756717,0.00007404791,0.00004140761],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.000191421,0.00003333486,0.00005593791,0.00005019899,0.00004587012,0.0007097592,0.0001119535,0.0000965151,0.1747378,0.00001686512,0.8234986,0.0004517474],"study_design_scores_gemma":[0.001094006,0.0003968244,0.04673022,0.0001674523,0.00004084425,0.0001242806,0.00002654169,0.0000114341,0.005453384,0.0003309143,0.9450091,0.0006150294],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8993255,0.0002845788,0.0004360332,0.09267234,0.0005306106,0.0008436258,0.0002434776,0.00002718494,0.00563663],"genre_scores_gemma":[0.9140528,0.00001841952,0.0001425757,0.06325369,0.0008740504,0.0002079079,0.002169319,0.0000648709,0.01921632],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1692844,"threshold_uncertainty_score":0.8941356,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02098756832558248,"score_gpt":0.2958111290556779,"score_spread":0.2748235607300955,"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."}}