{"id":"W2801525679","doi":"10.1002/jbmr.3424","title":"Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype","year":2018,"lang":"en","type":"article","venue":"Journal of Bone and Mineral Research","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":28,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster University Medical Centre","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Child Health and Human Development; National Institute of Arthritis and Musculoskeletal and Skin Diseases; National Institutes of Health; Queensland University of Technology","keywords":"Osteogenesis imperfecta; Procollagen peptidase; Bone mineral; Type I collagen; Skeletal disorder; Haploinsufficiency; Dentinogenesis imperfecta; Anatomy; Medicine; Pathology; Internal medicine; Phenotype; Osteoporosis; Biology; Genetics; Gene","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001617289,0.000950951,0.0005509342,0.001482133,0.0006398954,0.0002389599,0.0002755441,0.0003813608,0.001809689],"category_scores_gemma":[0.0005833899,0.0003274644,0.0003417869,0.0008168361,0.0005790739,0.0001108244,0.0005726937,0.0003477726,0.0004349673],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001577103,"about_ca_system_score_gemma":0.0001728225,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001783199,"about_ca_topic_score_gemma":0.00210359,"domain_scores_codex":[0.9996341,0.00003241325,0.00004976517,0.0001353456,0.0001004915,0.00004785093],"domain_scores_gemma":[0.9995352,0.00008357658,0.0002161327,0.00002528809,0.00003430414,0.0001054865],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001432514,0.0004189373,0.5241007,0.0002634384,0.0007141805,0.1370609,0.002363845,0.0006953857,0.2940392,0.0003978435,0.00174482,0.03676825],"study_design_scores_gemma":[0.0000451902,0.0004157024,0.8653031,0.00003477856,0.0001283551,0.1251339,0.000184646,0.0003412683,0.006150962,0.0001432084,0.00208565,0.00003331817],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9985532,0.0003330393,0.0004080055,0.00002378952,0.000007678366,0.00001210465,0.0002909695,0.00002386185,0.0003472509],"genre_scores_gemma":[0.9980296,0.0002266129,0.0007384397,0.00003485756,0.00002318244,0.00001061585,0.0004774917,0.0000160246,0.0004430873],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001809689,"threshold_uncertainty_score":0.006053984,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04031463596198824,"score_gpt":0.3334983109208521,"score_spread":0.2931836749588639,"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."}}