{"id":"W2002147490","doi":"10.1359/jbmr.070515","title":"Novel Mouse Model of Autosomal Semidominant Adult Hypophosphatasia Has a Splice Site Mutation in the Tissue Nonspecific Alkaline Phosphatase Gene <i>Akp2</i>","year":2007,"lang":"en","type":"article","venue":"Journal of Bone and Mineral Research","topic":"Alkaline Phosphatase Research Studies","field":"Medicine","cited_by":40,"is_retracted":false,"has_abstract":true,"ca_institutions":"Mount Sinai Hospital","funders":"Medical Research Council; National Institutes of Health; Horserace Betting Levy Board; U.S. Public Health Service; GlaxoSmithKline","keywords":"Hypophosphatasia; Alkaline phosphatase; Mutation; Endocrinology; Biology; Allele; Offspring; Internal medicine; Genetics; Gene; Molecular biology; Biochemistry; Medicine; Enzyme","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":[0.007782956,0.0002465112,0.0007623861,0.0007535805,0.0002144614,0.00005160783,0.0002318463,0.0001291243,0.00001613955],"category_scores_gemma":[0.001802675,0.0001616259,0.0001431032,0.0009615894,0.0005861844,0.0003200351,0.0001912196,0.001144454,0.000009159045],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001557974,"about_ca_system_score_gemma":0.0005120722,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00100384,"about_ca_topic_score_gemma":0.0004332692,"domain_scores_codex":[0.9953426,0.0001445533,0.001282355,0.000311575,0.002119653,0.0007992559],"domain_scores_gemma":[0.9961668,0.0008720106,0.0003835103,0.0004121288,0.001805395,0.0003601748],"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":[0.006502415,0.001615338,0.0009025271,0.0003642723,0.0001550851,0.002528663,0.00322016,0.0002638887,0.9546735,0.0004975248,0.01696791,0.01230867],"study_design_scores_gemma":[0.02255579,0.005662381,0.01095869,0.001064737,0.0003008615,0.004654309,0.006085804,0.0237007,0.9154719,0.0005594215,0.008416347,0.0005690375],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9642394,0.02846958,0.00202118,0.004024207,0.00004551723,0.0007524815,0.0003209523,0.000006891183,0.0001198314],"genre_scores_gemma":[0.978579,0.00847469,0.01134494,0.0002783204,0.0003579081,0.00001784079,0.00009906083,0.00003751268,0.0008107211],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.03920162,"threshold_uncertainty_score":0.6590915,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.07807314512523461,"score_gpt":0.373106803367631,"score_spread":0.2950336582423964,"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."}}