{"id":"W2099481056","doi":"10.1002/humu.20799","title":"<i>CRTAP</i>and<i>LEPRE1</i>mutations in recessive osteogenesis imperfecta","year":2008,"lang":"en","type":"article","venue":"Human Mutation","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":209,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Université de Montréal","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Dental and Craniofacial Research; National Institute of Arthritis and Musculoskeletal and Skin Diseases; Ministry of Health, State of Israel; National Center for Research Resources; National Institute of General Medical Sciences; McGill University","keywords":"Osteogenesis imperfecta; Biology; Genetics; Type I collagen; Mutation; Gene; Endocrinology; Anatomy","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":[],"consensus_categories":[],"category_scores_codex":[0.0001039901,0.00009374932,0.00008981868,0.0001051284,0.0001676296,0.00001281168,0.00007627774,0.00007406796,0.00005488674],"category_scores_gemma":[0.0001394929,0.0001054119,0.00002933504,0.0001439472,0.0001009092,0.000007917907,0.00004910507,0.0000663821,0.00001736403],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001938237,"about_ca_system_score_gemma":0.00005054054,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001593221,"about_ca_topic_score_gemma":0.0006889225,"domain_scores_codex":[0.9992025,0.00009498201,0.0001428299,0.00028526,0.0001103499,0.0001640847],"domain_scores_gemma":[0.9996456,0.00002429857,0.00004209234,0.0001506939,0.00009327847,0.00004403804],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.00009898962,0.0001039453,0.05835125,0.00002937197,0.00003397293,0.0000443813,0.002117604,0.0001916985,0.9247687,0.0002371718,0.0005406358,0.01348225],"study_design_scores_gemma":[0.003112452,0.0007078113,0.621135,0.00003082227,0.00002290062,0.0001622282,0.001339097,0.0003208559,0.3675115,0.001590385,0.003496943,0.0005699758],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9973382,0.0007061286,0.0002945029,0.0001135024,0.0000225504,0.0002355661,0.000008259718,0.00001004725,0.001271278],"genre_scores_gemma":[0.9987547,0.0001426619,0.0001138371,0.00006334539,0.00004763608,0.00007888785,0.0002921112,0.00001724844,0.0004895494],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5627837,"threshold_uncertainty_score":0.429857,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0222697848322475,"score_gpt":0.306917735238105,"score_spread":0.2846479504058575,"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."}}