{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001709142,0.001657016,0.0005266031,0.0009912187,0.0004930825,0.0002897075,0.0003320622,0.0007580951,0.00152442],"category_scores_gemma":[0.0005498491,0.000303011,0.0003530985,0.0005763483,0.0008619814,0.0001488652,0.000435654,0.0003852616,0.0003723069],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000247646,"about_ca_system_score_gemma":0.0002204985,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001443913,"about_ca_topic_score_gemma":0.00179206,"domain_scores_codex":[0.9997393,0.00003973109,0.00003442941,0.00008535838,0.00006655698,0.00003465982],"domain_scores_gemma":[0.9996737,0.00008634523,0.0001295293,0.00001518046,0.00001409204,0.00008119681],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.001051794,0.0001998014,0.09195706,0.0002457488,0.0004689184,0.5065343,0.0006667077,0.0008077217,0.3790078,0.0007902369,0.001534927,0.01673489],"study_design_scores_gemma":[0.00009680088,0.0006550516,0.2892022,0.00006041041,0.0003117282,0.6663957,0.0002058901,0.001617498,0.03717643,0.0004163979,0.00380922,0.00005273342],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9954329,0.0007595401,0.001758573,0.000192485,0.00004244389,0.00003009183,0.0004343433,0.0001602243,0.0011894],"genre_scores_gemma":[0.9983323,0.0002235662,0.0006064723,0.00006209577,0.00003353785,0.000008238722,0.000199652,0.00001942822,0.0005145734],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001657016,"threshold_uncertainty_score":0.005099714,"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."}}