{"id":"W4384461190","doi":"10.1016/j.bone.2023.116839","title":"X-linked hypophosphatemia caused by a deep intronic variant in PHEX identified by PCR-based RNA analysis of urine-derived cells","year":2023,"lang":"en","type":"article","venue":"Bone","topic":"Parathyroid Disorders and Treatments","field":"Medicine","cited_by":9,"is_retracted":false,"has_abstract":false,"ca_institutions":"Children's Hospital of Eastern Ontario; University of Ottawa; Shriners Hospitals for Children - Canada; University of Alberta; Women and Children’s Health Research Institute","funders":"University of Alberta; Women and Children's Health Research Institute; University of Ottawa","keywords":"PHEX; Hypophosphatemia; Intron; genomic DNA; Biology; Exon; Genetics; Fibroblast growth factor 23; Molecular biology; Complementary DNA; Gene; Internal medicine; Biochemistry; Endocrinology; Rickets; Medicine","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0002042281,0.0002235316,0.0007572475,0.0004409485,0.00003961274,0.00001532132,0.00009749994,0.0001220098,0.0001464112],"category_scores_gemma":[0.00005084261,0.0002044756,0.0002158722,0.001938412,0.00005599186,0.00004810348,0.00003433688,0.0001274309,0.0001575623],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001212364,"about_ca_system_score_gemma":0.0001065638,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009142119,"about_ca_topic_score_gemma":0.0003269391,"domain_scores_codex":[0.9982811,0.00006139639,0.0005347852,0.0004031593,0.0003232575,0.0003963442],"domain_scores_gemma":[0.9990811,0.00009001458,0.0001869475,0.0004398242,0.00005560956,0.0001464882],"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":[0.0005482896,0.001592925,0.009738596,0.00004772521,0.002087559,0.0007136462,0.0003954039,0.0009371564,0.9567925,0.0000180581,0.02666539,0.000462706],"study_design_scores_gemma":[0.06623191,0.001118646,0.2773536,0.0001327964,0.009939782,0.000006735333,0.0008314237,0.1258873,0.5145451,0.0002905822,0.002437724,0.001224479],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.993706,0.004676558,0.0003583351,0.0003102284,0.00007494046,0.0004485428,0.0001224389,0.00007166554,0.0002312356],"genre_scores_gemma":[0.9964198,0.0003428796,0.00008167458,0.0001396007,0.00001101108,0.0000739364,0.00087289,0.00003126023,0.002026882],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4422474,"threshold_uncertainty_score":0.8338273,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01246567605740391,"score_gpt":0.2608877138221298,"score_spread":0.2484220377647259,"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."}}