{"id":"W2996665386","doi":"10.1016/j.bone.2019.115190","title":"Hypophosphatemic osteosclerosis, hyperostosis, and enthesopathy associated with novel homozygous mutations of DMP1 encoding dentin matrix protein 1 and SPP1 encoding osteopontin: The first digenic SIBLING protein osteopathy?","year":2019,"lang":"en","type":"review","venue":"Bone","topic":"Bone and Dental Protein Studies","field":"Medicine","cited_by":21,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University","funders":"National Institute of Arthritis and Musculoskeletal and Skin Diseases; Canadian Institutes of Health Research; National Institutes of Health; Shriners Hospitals for Children; National Institute of Diabetes and Digestive and Kidney Diseases; Foundation for Barnes-Jewish Hospital","keywords":"Dentin sialophosphoprotein; DMP1; Osteosclerosis; Bone sialoprotein; Missense mutation; Genetics; Osteopontin; Biology; Dentinogenesis imperfecta; Endocrinology; Internal medicine; Medicine; Osteocalcin; Mutation; Pathology; Anatomy; Dentin; Biochemistry; Odontoblast; Gene; Osteogenesis imperfecta; Viral matrix protein","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0009903578,0.0008853294,0.002851777,0.0003963735,0.0006015558,0.0001627642,0.0002428072,0.0004375206,0.00001360291],"category_scores_gemma":[0.0005586949,0.0005929108,0.0004013847,0.0009216052,0.00043353,0.0002182652,0.0004562919,0.0008028658,0.00002215766],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001931885,"about_ca_system_score_gemma":0.0002926413,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002029513,"about_ca_topic_score_gemma":0.000127377,"domain_scores_codex":[0.9960927,0.000158635,0.001396926,0.0009262992,0.0007353933,0.00069005],"domain_scores_gemma":[0.9970245,0.0004498948,0.001462203,0.0006606879,0.0002299222,0.0001728122],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"systematic_review","study_design_scores_codex":[0.001467367,0.003618456,0.01114667,0.2217277,0.008261913,0.001067849,0.0131495,0.000007863768,0.04679677,0.0008397592,0.0002704578,0.6916457],"study_design_scores_gemma":[0.02894376,0.008078604,0.009652496,0.705304,0.03828971,0.007829782,0.01211974,0.000125735,0.01305764,0.0001485698,0.1683052,0.008144845],"study_design_candidate":"systematic_review","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.1617255,0.829691,0.00002083183,0.0001020526,0.0000947983,0.007860328,0.0002053193,0.00008430048,0.000215923],"genre_scores_gemma":[0.2266711,0.7690618,0.0005723428,0.00004483241,0.000141335,0.001573478,0.0001298002,0.0002163949,0.001588901],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.6835009,"threshold_uncertainty_score":0.9996522,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04418353606914685,"score_gpt":0.2842885411507689,"score_spread":0.2401050050816221,"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."}}