{"id":"W4200623506","doi":"10.1210/jendso/bvab159","title":"First Japanese Family With <i>PDX1</i>-MODY (MODY4): A Novel <i>PDX1</i> Frameshift Mutation, Clinical Characteristics, and Implications","year":2021,"lang":"en","type":"article","venue":"Journal of the Endocrine Society","topic":"Pancreatic function and diabetes","field":"Medicine","cited_by":24,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University","funders":"Japan Society for the Promotion of Science; Ministry of Education, Culture, Sports, Science and Technology","keywords":"Proband; PDX1; Frameshift mutation; Endocrinology; HNF1A; Mutation; Internal medicine; Medicine; Missense mutation; Genetics; Biology; Diabetes mellitus; Gene","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":[0.000128372,0.000999277,0.0005611671,0.0006090466,0.00173181,0.0004870556,0.0004617819,0.00107123,0.002590971],"category_scores_gemma":[0.0004746094,0.0005173898,0.0005686453,0.0004323674,0.0007291381,0.0003789846,0.0007951486,0.0007392844,0.0004423251],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004279742,"about_ca_system_score_gemma":0.0003895786,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004061243,"about_ca_topic_score_gemma":0.003290351,"domain_scores_codex":[0.9998342,0.00001663402,0.00001699093,0.0000691935,0.00001972887,0.00004317335],"domain_scores_gemma":[0.9997723,0.00004413917,0.00003842481,0.00002114285,0.00002349281,0.0001006498],"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":[0.0001566909,0.0001200552,0.07343543,0.00009797856,0.0000787418,0.8937351,0.001690586,0.0001616266,0.01989854,0.0005391968,0.001344013,0.008742134],"study_design_scores_gemma":[0.00004511544,0.0002461663,0.08010277,0.00004596667,0.0001393515,0.9052588,0.0008011016,0.0003158973,0.003154161,0.0005630882,0.009275544,0.00005195063],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9934911,0.001012142,0.001054235,0.0006621609,0.00008691809,0.00003240955,0.0002189273,0.00006352754,0.003378504],"genre_scores_gemma":[0.9962127,0.0005412454,0.0007061504,0.0003133352,0.00009294891,0.00001648338,0.0001391033,0.00002768525,0.001950359],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004061243,"threshold_uncertainty_score":0.008667707,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02202442504486805,"score_gpt":0.2939813518990536,"score_spread":0.2719569268541855,"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."}}