{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003987162,0.000695696,0.002120237,0.002802097,0.0001756901,0.0007146421,0.0009458632,0.0009191674,0.002231161],"category_scores_gemma":[0.0008604291,0.0002749334,0.000554123,0.002529988,0.0004272633,0.0008243565,0.0005415239,0.0009074368,0.0008868171],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004255399,"about_ca_system_score_gemma":0.0009985252,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001915116,"about_ca_topic_score_gemma":0.003652396,"domain_scores_codex":[0.999801,0.00002803742,0.00005108251,0.00003755823,0.00006626923,0.00001601403],"domain_scores_gemma":[0.9997053,0.0001529557,0.00006454267,0.000007550427,0.00004726481,0.00002225412],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.0001576059,0.00004253543,0.0007155199,0.05139154,0.0005602848,0.001763325,0.0000657885,0.000155215,0.001661942,0.00196473,0.03046991,0.9110516],"study_design_scores_gemma":[0.0001413843,0.0001173791,0.005474579,0.02527063,0.002281075,0.02590237,0.0002400749,0.0001096599,0.0007531248,0.002561328,0.9370802,0.00006818183],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.00008635715,0.9995562,0.00002049494,0.00008548906,0.00004344125,0.000001061871,0.00001404084,0.000001776893,0.000191153],"genre_scores_gemma":[0.0008295436,0.9986307,0.00008571181,0.0001918121,0.00007586363,0.000001883967,0.00003081652,8.519797e-7,0.0001527783],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.002802097,"threshold_uncertainty_score":0.007463932,"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."}}