{"id":"W1950894756","doi":"10.1093/hmg/ddv337","title":"Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene,<i>PPP1R15B</i>, is associated with severe microcephaly, short stature and intellectual disability","year":2015,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"RNA regulation and disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":60,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Ottawa; McGill University and Génome Québec Innovation Centre; McGill University; Children's Hospital of Eastern Ontario","funders":"University of Toronto; Canadian Institutes of Health Research; Children's Hospital of Eastern Ontario Foundation; Ontario Genomics; Genome Canada; McGill University; Ontario Genomics Institute; University of Ottawa","keywords":"Biology; Missense mutation; Genetics; Microcephaly; Translation (biology); eIF2; Mutation; Initiation factor; Eukaryotic translation; Gene; Cell biology; Messenger RNA","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0001864605,0.0002238587,0.0001476595,0.00004328213,0.0000964115,0.00008240788,0.0001457194,0.0001727588,0.00001673255],"category_scores_gemma":[0.00009748492,0.0001879138,0.00005588084,0.0001864181,0.0001566915,0.00001281377,0.00003170563,0.000122492,0.000002091382],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004311676,"about_ca_system_score_gemma":0.0001033783,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001286086,"about_ca_topic_score_gemma":0.0001849548,"domain_scores_codex":[0.9985886,0.00021884,0.0002645789,0.0003973835,0.0003088788,0.0002217077],"domain_scores_gemma":[0.9992928,0.00002791667,0.00007606209,0.0003287729,0.000139951,0.0001344896],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.002657629,0.003680653,0.3476803,0.0002855386,0.0009128592,0.0009769975,0.03469098,0.01632981,0.5426731,0.0003381617,0.008392747,0.04138123],"study_design_scores_gemma":[0.008007095,0.002137138,0.8336037,0.0000677077,0.0004197429,0.0003722277,0.002146742,0.004183304,0.1444581,0.001265836,0.001712237,0.001626212],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9937443,0.002837963,0.002495281,0.0001074495,0.00002641294,0.0004911363,0.0001493673,0.00001470586,0.0001333978],"genre_scores_gemma":[0.996865,0.00006485979,0.0003559105,0.0006617657,0.00003967573,0.00002444288,0.001939791,0.00003010562,0.00001845967],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4859233,"threshold_uncertainty_score":0.7662904,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02531379187244751,"score_gpt":0.2670839310366299,"score_spread":0.2417701391641824,"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."}}