{"id":"W2031276095","doi":"10.1073/pnas.0910533107","title":"Recessive mutations in the <i>INS</i> gene result in neonatal diabetes through reduced insulin biosynthesis","year":2010,"lang":"en","type":"article","venue":"Proceedings of the National Academy of Sciences","topic":"Pancreatic function and diabetes","field":"Medicine","cited_by":209,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"Instituto de Salud Carlos III; European Commission; Wellcome Trust; Centre of Excellence for Environmental Decisions, Australian Research Council; Vanderbilt University","keywords":"Proinsulin; Biology; Genetics; Gene; Mutation; Proband; Insulin; Endocrinology","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":[0.001573871,0.00009092859,0.0001883063,0.0002168797,0.0001167211,0.00001866741,0.0004602654,0.00009953804,0.00002088846],"category_scores_gemma":[0.004312385,0.00005077892,0.00005978341,0.001504311,0.0008256835,0.0003531172,0.00004934185,0.0003338579,0.00000215051],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002297492,"about_ca_system_score_gemma":0.00007246667,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001867156,"about_ca_topic_score_gemma":7.251397e-7,"domain_scores_codex":[0.9983722,0.00001380342,0.0003883606,0.0002172708,0.0008438309,0.0001645442],"domain_scores_gemma":[0.9989167,0.0005578203,0.0002852812,0.00001565457,0.0001988768,0.0000256031],"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":[0.00003156378,0.00009192956,0.0351172,0.00004061553,0.000010556,2.672793e-8,0.001553371,0.00001129943,0.9519794,0.01007596,0.0004211707,0.0006669146],"study_design_scores_gemma":[0.0004898821,0.00004454544,0.2428898,0.0001324101,0.00001750387,0.000006067705,0.001188048,0.0003773372,0.7300642,0.02439104,0.000336454,0.00006269089],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9735098,0.0001414663,8.450004e-8,0.01552193,0.00003411317,0.0002511731,0.0000179018,0.000008051856,0.01051542],"genre_scores_gemma":[0.9966533,0.00003682794,0.001914633,0.00122801,0.00008006187,0.00003247465,7.429419e-7,0.000003557572,0.00005041351],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2219151,"threshold_uncertainty_score":0.5162639,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03442522786409954,"score_gpt":0.3068992218122814,"score_spread":0.2724739939481819,"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."}}