{"id":"W2077144474","doi":"10.1002/jbmr.105","title":"Long-term clinical outcome and carrier phenotype in autosomal recessive hypophosphatemia caused by a novel <i>DMP1</i> mutation","year":2010,"lang":"en","type":"article","venue":"Journal of Bone and Mineral Research","topic":"Parathyroid Disorders and Treatments","field":"Medicine","cited_by":61,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"National Institutes of Health; National Institute of Diabetes and Digestive and Kidney Diseases; Academy of Finland","keywords":"DMP1; Fibroblast growth factor 23; Hypophosphatemia; PHEX; Endocrinology; Internal medicine; Mutation; Osteomalacia; Medicine; Hypophosphatemic Rickets; Hyperostosis; Compound heterozygosity; Pathology; Biology; Parathyroid hormone; Genetics; Anatomy; Osteoporosis; Rickets; Gene; Vitamin D and neurology","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":[0.001171476,0.0001087944,0.0004334197,0.0001925542,0.00005942874,0.0000420923,0.00004181122,0.0001442925,0.00001148344],"category_scores_gemma":[0.0006557181,0.000077367,0.00006293042,0.0001780299,0.0001698631,0.0001645776,0.00004066122,0.0009077876,0.000003229335],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003106488,"about_ca_system_score_gemma":0.0001969176,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001119921,"about_ca_topic_score_gemma":0.0002156308,"domain_scores_codex":[0.9984369,0.00007074617,0.0006140282,0.0001776352,0.0004300318,0.0002706941],"domain_scores_gemma":[0.9989213,0.0002090294,0.0001653408,0.000105382,0.0002820534,0.0003168939],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0007202735,0.0005291055,0.9029607,0.00001810391,0.00006978735,0.0008668762,0.0001958006,2.284526e-7,0.08644513,0.00002166788,0.004417031,0.003755311],"study_design_scores_gemma":[0.01104663,0.001100528,0.9858211,0.00003703468,0.00005492573,0.0003322447,0.00008906356,0.00006690731,0.0006129185,0.00007148409,0.0006835018,0.00008366901],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9916815,0.006371617,0.000009560094,0.001348866,0.0001288293,0.0001969671,0.00001081826,0.000002718509,0.000249165],"genre_scores_gemma":[0.9968926,0.0008997119,0.0002606413,0.0001316929,0.0001345635,0.00000410237,0.00000929712,0.00001274357,0.001654693],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.08583222,"threshold_uncertainty_score":0.3943936,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.07328836253479311,"score_gpt":0.4344975893422974,"score_spread":0.3612092268075043,"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."}}