{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001972614,0.0002305825,0.000981575,0.00009816643,0.0002332135,0.0000123206,0.0006865156,0.0001177793,0.00002512302],"category_scores_gemma":[0.002185779,0.00009663631,0.0005671396,0.0002793453,0.0004328782,0.000122707,0.0001517939,0.0008038887,0.000002066343],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000311324,"about_ca_system_score_gemma":0.0002612129,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00008779799,"about_ca_topic_score_gemma":0.000005714875,"domain_scores_codex":[0.9965336,0.0006284042,0.001721702,0.0001827729,0.0005122711,0.0004212541],"domain_scores_gemma":[0.9954015,0.001655206,0.001716449,0.0005440154,0.0005267537,0.000156087],"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":[0.01024695,0.003648649,0.02666167,0.0004615008,0.002727494,0.00006965466,0.01072545,0.02267249,0.8493533,0.003218532,0.0009801215,0.06923424],"study_design_scores_gemma":[0.009872261,0.001401201,0.2216364,0.0002444138,0.001469543,0.0003946002,0.000854428,0.0007261436,0.7590038,0.002146656,0.002093439,0.0001571048],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9832807,0.00219476,0.0005952863,0.01143325,0.001765951,0.0006279486,0.00003043903,0.00001017019,0.00006156317],"genre_scores_gemma":[0.9954035,0.0003099646,0.0005088535,0.002484299,0.001108472,0.0000152752,0.000004120933,0.00002706186,0.0001384975],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1949747,"threshold_uncertainty_score":0.3940714,"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."}}