{"id":"W2107007476","doi":"10.2337/db11-0305","title":"Heterozygous Mutations Causing Partial Prohormone Convertase 1 Deficiency Contribute to Human Obesity","year":2011,"lang":"en","type":"article","venue":"Diabetes","topic":"Cellular transport and secretion","field":"Biochemistry, Genetics and Molecular Biology","cited_by":112,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster University","funders":"","keywords":"Prohormone convertase; Compound heterozygosity; Heterozygote advantage; Mutation; Biology; Nonsynonymous substitution; Genetics; Exon; Endocrinology; Gene; Internal medicine; Allele; Prohormone; Medicine; Hormone","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":[0.00009798918,0.0001080247,0.0001062228,0.00003119666,0.0001456535,0.00001496959,0.00007210799,0.00007824445,0.00004896145],"category_scores_gemma":[0.00001964844,0.0001095442,0.00006397628,0.00005121953,0.00005172254,0.000004377123,0.00002538932,0.00004439041,0.00002076729],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000007885269,"about_ca_system_score_gemma":0.00001866068,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005142705,"about_ca_topic_score_gemma":0.00005602049,"domain_scores_codex":[0.9992535,0.00002318177,0.0001545656,0.0002370177,0.00007853017,0.000253216],"domain_scores_gemma":[0.999602,0.000003039268,0.00003805009,0.0001882396,0.00006541653,0.0001032975],"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":[0.00001244278,0.00009219929,0.05304865,0.000009680958,0.00001602604,0.000005905536,0.0003091995,0.000005221789,0.9462745,0.00007887143,0.00003158473,0.0001157575],"study_design_scores_gemma":[0.0003286076,0.0002736523,0.03118977,0.000007891153,0.00003725879,0.000001302704,0.00003750909,0.00004798876,0.9662254,0.00010273,0.001558721,0.000189174],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9941089,0.0002148111,0.005025749,0.00001860782,0.00008237714,0.000222208,0.00004111396,0.00002100927,0.0002651934],"genre_scores_gemma":[0.9975159,0.000004509745,0.000166245,0.0001326695,0.00006661001,0.00002976407,0.002002579,0.00001231073,0.00006943507],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02185887,"threshold_uncertainty_score":0.4467081,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0161427764932745,"score_gpt":0.2289058349699639,"score_spread":0.2127630584766894,"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."}}