{"id":"W2810137252","doi":"10.1016/j.bone.2018.06.018","title":"Novel WNT1 mutations in children with osteogenesis imperfecta: Clinical and functional characterization","year":2018,"lang":"en","type":"article","venue":"Bone","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":29,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University; Montreal Children's Hospital","funders":"Key Technology Research and Development Program of Shandong; Shandong Academy of Sciences; Natural Science Foundation of Shandong Province; Academy of Medical Sciences; Shriners Hospitals for Children","keywords":"Osteogenesis imperfecta; Characterization (materials science); Medicine; Genetics; Biology; Anatomy; Nanotechnology; Materials science","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":[0.0002174488,0.0008550133,0.0004783616,0.00198681,0.0005590309,0.0005042492,0.0005235196,0.0008742111,0.00207218],"category_scores_gemma":[0.001739518,0.0003240927,0.0003751586,0.001156581,0.001104075,0.0003371294,0.0004916211,0.0003685222,0.000332977],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003369602,"about_ca_system_score_gemma":0.0004153942,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003598597,"about_ca_topic_score_gemma":0.002652443,"domain_scores_codex":[0.9995813,0.00002868689,0.00006184619,0.00009563882,0.0001340821,0.00009848276],"domain_scores_gemma":[0.9993857,0.0002330036,0.0001875986,0.00002126194,0.00005324102,0.0001191271],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001227314,0.0002395569,0.5004553,0.0002168912,0.0001236461,0.3283017,0.002163209,0.001074428,0.1431198,0.001165606,0.0009923761,0.02092007],"study_design_scores_gemma":[0.00007975787,0.0003026249,0.5110993,0.0000650201,0.0001970268,0.4663444,0.001028324,0.001146448,0.01674046,0.0003705449,0.002586898,0.00003917993],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9978816,0.0004288359,0.0003048567,0.00008922305,0.000008046487,0.00001256843,0.0003413377,0.00001753038,0.0009159847],"genre_scores_gemma":[0.9985996,0.0002393408,0.0005451707,0.00003348272,0.00001015906,0.00001054431,0.0002255574,0.00001271467,0.0003235644],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003598597,"threshold_uncertainty_score":0.007155299,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02040942835274792,"score_gpt":0.3008189218412404,"score_spread":0.2804094934884924,"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."}}