{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001223161,0.00008839959,0.0001962684,0.0001113451,0.0001444299,0.00002015205,0.0001922849,0.00007219944,0.00001727902],"category_scores_gemma":[0.0009903176,0.0000464761,0.00006966612,0.0004183482,0.0005135495,0.00000851596,0.0001828636,0.0002090233,7.115364e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002243749,"about_ca_system_score_gemma":0.0003487828,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000170586,"about_ca_topic_score_gemma":0.001746816,"domain_scores_codex":[0.9985298,0.0004192054,0.0002226164,0.0001341339,0.0004639779,0.000230296],"domain_scores_gemma":[0.9976646,0.0001107945,0.0002330272,0.0002405631,0.00168991,0.00006111173],"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":[0.0007317478,0.00008940481,0.02784092,0.00003861188,0.0001491404,0.00001261308,0.0007758259,0.000005354919,0.9678802,0.00001093448,0.001407021,0.001058246],"study_design_scores_gemma":[0.001556811,0.00518596,0.2240422,0.0002851474,0.00007701151,0.00009317909,0.002258036,0.0001283633,0.7643916,0.0000677346,0.001757547,0.0001563608],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9976349,0.0008741996,0.00001074169,0.0006314366,0.00002062345,0.000368714,0.0000174978,8.038749e-7,0.000441097],"genre_scores_gemma":[0.9978584,0.0001797942,0.0000296357,0.00002932681,0.0001027784,0.00000884898,0.000004594018,0.0000157282,0.001770918],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2034886,"threshold_uncertainty_score":0.189524,"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."}}