{"id":"W4256595977","doi":"10.14740/jmc2597e","title":"Identification of Novel Mutation in <i>EIF2AK3</i> Gene as a Causal Variant in a Family With Rare Disease","year":2017,"lang":"en","type":"article","venue":"Journal of Medical Cases","topic":"Pancreatic function and diabetes","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"University of Exeter; Wellcome Trust","keywords":"Frameshift mutation; Missense mutation; Genetics; Exon; Medicine; Gene; Mutation; Biology","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":true,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002229833,0.00113044,0.0006447435,0.00136471,0.001451792,0.0005522412,0.0007628785,0.001798881,0.003861639],"category_scores_gemma":[0.001040401,0.0004970884,0.0006715552,0.0007705872,0.001085406,0.0005826817,0.0006142696,0.001145915,0.000522411],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004505614,"about_ca_system_score_gemma":0.0003800658,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00183035,"about_ca_topic_score_gemma":0.00160917,"domain_scores_codex":[0.9997067,0.00003113298,0.00003158613,0.0001140783,0.00005434579,0.0000621176],"domain_scores_gemma":[0.9994783,0.0001613347,0.0001358583,0.00002884344,0.00003638546,0.0001593841],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.00004525371,0.00004456741,0.01671043,0.00001910373,0.00001364198,0.9754847,0.0002439787,0.00006878579,0.005636827,0.0002511335,0.0002706518,0.001210884],"study_design_scores_gemma":[0.00001893453,0.00008568857,0.02234196,0.00001762921,0.00003060724,0.9735111,0.00017948,0.0003739539,0.002404595,0.0002307772,0.0007902053,0.00001506805],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9943415,0.0005791457,0.001289936,0.0008337905,0.00009814896,0.00003384938,0.0002066429,0.00008629764,0.002530598],"genre_scores_gemma":[0.9980925,0.0001954617,0.000730571,0.00015863,0.00008667979,0.000007750643,0.00007193351,0.00001816781,0.0006382623],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003861639,"threshold_uncertainty_score":0.01291847,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0321097249259779,"score_gpt":0.3178879820917103,"score_spread":0.2857782571657324,"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."}}