{"id":"W2053852716","doi":"10.1210/jc.2004-0568","title":"Permanent Neonatal Diabetes due to Paternal Germline Mosaicism for an Activating Mutation of the KCNJ11 Gene Encoding the Kir6.2 Subunit of the β-Cell Potassium Adenosine Triphosphate Channel","year":2004,"lang":"en","type":"article","venue":"The Journal of Clinical Endocrinology & Metabolism","topic":"Pancreatic function and diabetes","field":"Medicine","cited_by":89,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Izaak Walton Killam Health Centre; Dalhousie University","funders":"","keywords":"Proband; Germline; Germline mosaicism; Genetics; Biology; Mutation; Germline mutation; Gene; Molecular biology; Endocrinology; Internal medicine; Medicine","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":[0.0002150123,0.0004518655,0.0002104741,0.0004009016,0.0002914467,0.0002097157,0.0001952931,0.0003090995,0.002039831],"category_scores_gemma":[0.001235547,0.0002513289,0.0001480679,0.0002067201,0.0004280662,0.0001652045,0.0003333833,0.0004063567,0.0003793359],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001965003,"about_ca_system_score_gemma":0.0001628715,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004812711,"about_ca_topic_score_gemma":0.0008389038,"domain_scores_codex":[0.9998266,0.00003009663,0.00001496169,0.00003833587,0.00005322597,0.00003667756],"domain_scores_gemma":[0.9995301,0.000135555,0.0001503139,0.00003701743,0.00002863373,0.0001184502],"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":[0.00097064,0.0001599141,0.1992435,0.0002192564,0.00009817065,0.6336677,0.0005981582,0.0002765166,0.1009651,0.001235735,0.00170856,0.06085657],"study_design_scores_gemma":[0.00004041446,0.0003450104,0.08135825,0.00002025851,0.00004533989,0.9073607,0.00008491684,0.000315514,0.008962453,0.0002543486,0.001203536,0.000009270986],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9947412,0.0007350331,0.001958754,0.0001400566,0.00004505183,0.000007846743,0.00008816347,0.0000595293,0.002224232],"genre_scores_gemma":[0.9976093,0.0005295178,0.0006444025,0.00006842567,0.00004521349,0.000003452506,0.00007655224,0.00001435948,0.001008848],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002039831,"threshold_uncertainty_score":0.006823897,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04506315892122846,"score_gpt":0.3302261771751475,"score_spread":0.285163018253919,"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."}}