{"id":"W2150420571","doi":"10.1093/hmg/dds371","title":"Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen","year":2012,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":139,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Mount Sinai Hospital","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Arthritis and Musculoskeletal and Skin Diseases; Health Research Council of New Zealand; University of Washington; National Institutes of Health; Osteogenesis Imperfecta Foundation","keywords":"Osteogenesis imperfecta; Missense mutation; Genetics; Type I collagen; Haploinsufficiency; Mutation; Procollagen peptidase; Chemistry; Biology; Endocrinology; Phenotype; Internal medicine; Gene; Medicine; Anatomy","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":[0.0000911848,0.0009183883,0.0003339365,0.0007889945,0.0003534824,0.0001304731,0.0002645633,0.0004654499,0.001452968],"category_scores_gemma":[0.00053778,0.0001884769,0.0001942283,0.0004118647,0.0004758555,0.0001248933,0.0003588519,0.0002033395,0.0002911349],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003948571,"about_ca_system_score_gemma":0.000264094,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004305921,"about_ca_topic_score_gemma":0.008081344,"domain_scores_codex":[0.9998195,0.00001862116,0.00002101958,0.00003671537,0.00006512838,0.00003915991],"domain_scores_gemma":[0.999707,0.00004241895,0.0001648048,0.0000140478,0.00001645074,0.00005515243],"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":[0.0007155301,0.0001742989,0.1906375,0.0002472062,0.0003289176,0.04228619,0.0006598342,0.001215941,0.7103826,0.0007847144,0.0007390949,0.05182826],"study_design_scores_gemma":[0.0001356237,0.0005969958,0.7932625,0.00005894058,0.0001605374,0.1147886,0.0003679488,0.00171692,0.08033297,0.0005377516,0.007986082,0.00005504702],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9961528,0.001068662,0.001276215,0.00004883902,0.000008980879,0.00002041819,0.0002439607,0.00005457503,0.00112548],"genre_scores_gemma":[0.9980128,0.0003354524,0.0008826256,0.00002291592,0.000004647973,0.00001767547,0.0001612693,0.000005754981,0.0005568819],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004305921,"threshold_uncertainty_score":0.00856173,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01229113707989551,"score_gpt":0.2903897453581242,"score_spread":0.2780986082782287,"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."}}