{"id":"W4396234298","doi":"10.55627/mmc.003.02.0362","title":"Identification of MC4R and VCP Genetic Variants in Two Pakistani Families Showing Symptoms of Diabetes, Hyperphagia, Seizures, and Obesity","year":2023,"lang":"en","type":"article","venue":"Molecular Medicine Communications","topic":"Diet and metabolism studies","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster University","funders":"","keywords":"Identification (biology); Obesity; Diabetes mellitus; Genetics; Medicine; Biology; Internal medicine; Endocrinology","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":[0.0002679893,0.001171618,0.0004684879,0.001914506,0.001438026,0.0005576823,0.0006290411,0.001396155,0.002257595],"category_scores_gemma":[0.001402347,0.0005164443,0.0005241897,0.000883728,0.0008233779,0.0002863079,0.0007548904,0.0007650575,0.000262472],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006479449,"about_ca_system_score_gemma":0.0004055306,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.007709598,"about_ca_topic_score_gemma":0.005844234,"domain_scores_codex":[0.999396,0.00006433928,0.00006842888,0.0002508456,0.0001247812,0.00009577734],"domain_scores_gemma":[0.9994769,0.0001805195,0.0001080283,0.00003235339,0.00005548609,0.0001467515],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0004906462,0.0003120086,0.3204599,0.00006711717,0.00008733874,0.6296021,0.004929962,0.0003088595,0.03408827,0.0004520578,0.0006961593,0.008505575],"study_design_scores_gemma":[0.00008924247,0.0004349842,0.4280207,0.00007113082,0.0001118194,0.5590519,0.002259616,0.001178987,0.005792055,0.0003434953,0.002570087,0.00007601501],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9985228,0.0001405513,0.0003174327,0.0001634456,0.00001887012,0.00003235045,0.0001819644,0.000006970675,0.0006156561],"genre_scores_gemma":[0.9987262,0.0001583508,0.0004894733,0.0001576811,0.00002823887,0.00001237019,0.0001303964,0.000007028573,0.0002904351],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007709598,"threshold_uncertainty_score":0.01532942,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02115684964876913,"score_gpt":0.3086296412830037,"score_spread":0.2874727916342346,"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."}}