{"id":"W4404482028","doi":"10.2337/db24-0515","title":"Diabetes Associated With Maternally Inherited Diabetes and Deafness (MIDD): From Pathogenic Variant to Phenotype","year":2024,"lang":"en","type":"review","venue":"Diabetes","topic":"RNA modifications and cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":14,"is_retracted":false,"has_abstract":true,"ca_institutions":"BC Children's Hospital; University of British Columbia","funders":"McGill University","keywords":"Heteroplasmy; Biology; Insulin resistance; Diabetes mellitus; Mitochondrial DNA; Genetics; Phenotype; mTORC1; Internal medicine; Mitochondrial disease; Type 2 diabetes; Endocrinology; Medicine; Gene; PI3K/AKT/mTOR pathway; Signal transduction","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":[0.0001167247,0.0003833603,0.0002194544,0.000323418,0.0002280168,0.0004240976,0.0002149587,0.0004549185,0.001633188],"category_scores_gemma":[0.0005301074,0.00006277835,0.0001701619,0.0002890856,0.0003170097,0.0002102961,0.0003318375,0.0005129062,0.0002791074],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000277423,"about_ca_system_score_gemma":0.0001856731,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006469603,"about_ca_topic_score_gemma":0.0004392532,"domain_scores_codex":[0.9999096,0.00001528438,0.00001028084,0.00002674675,0.00002167388,0.00001641261],"domain_scores_gemma":[0.9998614,0.00004850808,0.00003742406,0.000006463945,0.00001536629,0.00003081586],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.001251552,0.0001619824,0.2802816,0.0006965316,0.000211381,0.2506155,0.0009032995,0.0009652799,0.1343812,0.01155242,0.01404442,0.3049348],"study_design_scores_gemma":[0.00009165415,0.0005518349,0.2707731,0.0005992411,0.0003129707,0.6526017,0.0007831297,0.002036566,0.01752684,0.01276023,0.0418949,0.00006782314],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"review","genre_scores_codex":[0.9314007,0.03243908,0.007727216,0.007386589,0.0005694146,0.00004515523,0.0008198388,0.0002441495,0.01936793],"genre_scores_gemma":[0.9826759,0.01106834,0.002702044,0.001006205,0.0005017827,0.00001176182,0.0003240145,0.00002890977,0.001681089],"genre_candidate":"review","genre_consensus":null,"teacher_disagreement_score":0.001633188,"threshold_uncertainty_score":0.0054636,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01542004570020938,"score_gpt":0.2580547021877749,"score_spread":0.2426346564875655,"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."}}