{"id":"W2889856337","doi":"10.1111/1753-0407.12849","title":"Novel frameshift mutation in the insulin (<i>INS</i>) gene in a family with maturity onset diabetes of the young (MODY)","year":2018,"lang":"en","type":"article","venue":"Journal of Diabetes","topic":"Pancreatic function and diabetes","field":"Medicine","cited_by":15,"is_retracted":false,"has_abstract":true,"ca_institutions":"Ministry of Education and Child Care","funders":"National Natural Science Foundation of China","keywords":"Frameshift mutation; Medicine; Diabetes mellitus; Maturity onset diabetes of the young; Family history; Insulin; Internal medicine; Mutation; Endocrinology; HNF1A; Gene mutation; Gene; Type 2 diabetes; Genetics; Biology","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001843545,0.000708316,0.0002828856,0.000794208,0.0008517401,0.0002812787,0.0003173566,0.000741802,0.001571119],"category_scores_gemma":[0.0007756855,0.0002455071,0.0003921724,0.000400412,0.0005641644,0.0002714492,0.0004000499,0.0005414785,0.0002087989],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003170448,"about_ca_system_score_gemma":0.0003076644,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001539358,"about_ca_topic_score_gemma":0.001325828,"domain_scores_codex":[0.9998381,0.00001984837,0.00001700391,0.00005469899,0.00002918167,0.00004110533],"domain_scores_gemma":[0.9995261,0.0001248593,0.0001035058,0.00001606547,0.00002638494,0.0002030514],"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":[0.0001456547,0.00007150037,0.05984225,0.00002304703,0.00002129488,0.9206555,0.0006131381,0.0001047158,0.01395826,0.0003220185,0.0004552933,0.003787318],"study_design_scores_gemma":[0.00003785515,0.0003493973,0.07990201,0.00002290708,0.00005525106,0.9124177,0.0003729304,0.0003794546,0.004824465,0.0002434801,0.001372813,0.0000217988],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9981428,0.0002014814,0.0004586703,0.0002002453,0.00004132007,0.000009068326,0.00005226759,0.00001892016,0.0008753004],"genre_scores_gemma":[0.999252,0.00007071715,0.0002947804,0.00007951489,0.00004002208,0.000002894598,0.00002778028,0.000004554337,0.0002276757],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001571119,"threshold_uncertainty_score":0.005255938,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01163041687319539,"score_gpt":0.236407925918412,"score_spread":0.2247775090452166,"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."}}