{"id":"W2122041315","doi":"10.1093/ndtplus/sfn163","title":"A novel disease-causing mutation in AVPR2: Q96H","year":2008,"lang":"en","type":"article","venue":"Clinical Kidney Journal","topic":"Neuroendocrine regulation and behavior","field":"Psychology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Hôpital du Sacré-Cœur de Montréal; University of Toronto; Mount Sinai Hospital; Hospital for Sick Children","funders":"","keywords":"Nephrogenic diabetes insipidus; Arginine vasopressin receptor 2; Medicine; Vasopressin; Mutation; Arginine; Genetics; Internal medicine; Bioinformatics; Computational biology; Gene; Receptor; Biology; Amino acid","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":["insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.0003570492,0.000120562,0.0002263897,0.0001535455,0.0001407092,0.00003006853,0.000116079,0.00006266063,0.00183334],"category_scores_gemma":[0.001118077,0.0001081588,0.0002083256,0.0002002431,0.0001368553,0.0001379907,0.00002879435,0.0006873445,0.0002660436],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003691688,"about_ca_system_score_gemma":0.0002221529,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000006424373,"about_ca_topic_score_gemma":0.000001912127,"domain_scores_codex":[0.9981193,0.000239108,0.0008646027,0.0002557288,0.0002248297,0.0002964231],"domain_scores_gemma":[0.9984438,0.0002402107,0.0002252768,0.0002025838,0.00007789633,0.0008102733],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006530171,0.003189191,0.8472106,0.000009103669,0.00005117329,0.01294497,0.0005537823,0.00003631142,0.0007555293,0.0007443266,0.1058169,0.02803515],"study_design_scores_gemma":[0.003454343,0.0001071059,0.960904,0.00004378584,0.00003325864,0.005737542,0.00005356777,0.0001531918,0.00001045337,0.0002282619,0.02913267,0.0001418263],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9852839,0.00005852199,0.002276961,0.008530087,0.0025887,0.0001363055,0.000009941488,0.00004023048,0.001075414],"genre_scores_gemma":[0.9903001,0.00002228898,0.0007685818,0.003235939,0.00090213,0.000006280946,0.000009350797,0.00002501589,0.00473031],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1136934,"threshold_uncertainty_score":0.9990791,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1828393651383329,"score_gpt":0.4498657891326135,"score_spread":0.2670264239942807,"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."}}