{"id":"W2059365420","doi":"10.1016/j.gene.2015.04.011","title":"Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene","year":2015,"lang":"en","type":"article","venue":"Gene","topic":"Muscle metabolism and nutrition","field":"Biochemistry, Genetics and Molecular Biology","cited_by":39,"is_retracted":false,"has_abstract":false,"ca_institutions":"SickKids Foundation; University of Toronto; Hospital for Sick Children","funders":"National Heart, Lung, and Blood Institute","keywords":"Missense mutation; Biology; Population; Creatine; Genetics; In silico; Gene; Endocrinology; Mutation; 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":[0.0004353338,0.00008406284,0.0001214143,0.00008073294,0.00001724732,0.000005393516,0.00008799363,0.00008342516,0.000004600129],"category_scores_gemma":[0.00003122508,0.00006101364,0.00002962756,0.00023888,0.00002765854,0.000009873986,0.000007207606,0.00004523845,8.817458e-8],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00000944366,"about_ca_system_score_gemma":0.0000454525,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006007801,"about_ca_topic_score_gemma":0.0002053252,"domain_scores_codex":[0.9991646,0.0001029797,0.0003209002,0.0001505164,0.0001498025,0.0001111728],"domain_scores_gemma":[0.9996436,0.000005669846,0.000106341,0.0001646978,0.000064362,0.00001530817],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.00007069063,0.0001682185,0.09038556,0.00001363186,0.000002603187,0.000002390613,0.0003106838,0.001238167,0.9076265,0.00005154707,0.000001334465,0.0001287122],"study_design_scores_gemma":[0.000966811,0.0000394778,0.9032999,0.00001598053,0.00001209407,0.00001954691,0.00005210426,0.002027715,0.09344443,0.00005197346,0.000005508753,0.00006441666],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9961472,0.0003065363,0.003119993,0.00005311101,0.0000654231,0.0001925203,0.00009294051,0.000001335956,0.00002096465],"genre_scores_gemma":[0.9966258,0.00003407405,0.001981552,0.00005698909,0.00008212173,0.00001079183,0.001198949,0.000006835204,0.000002910767],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.814182,"threshold_uncertainty_score":0.2488064,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06529028855040432,"score_gpt":0.2852120781290094,"score_spread":0.2199217895786051,"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."}}