{"id":"W2038299999","doi":"10.1016/j.bone.2014.06.041","title":"Skeletal characteristics associated with homozygous and heterozygous WNT1 mutations","year":2014,"lang":"en","type":"article","venue":"Bone","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":53,"is_retracted":false,"has_abstract":false,"ca_institutions":"Shriners Hospitals for Children - Canada; University of British Columbia; McGill University; Montreal Children's Hospital","funders":"Allgemeine Unfallversicherungsanstalt; Réseau de Recherche en Santé Buccodentaire et Osseuse; McGill University","keywords":"Osteogenesis imperfecta; Missense mutation; Osteoporosis; Bone density; Compound heterozygosity; Medicine; Bone mineral; Endocrinology; Internal medicine; Mutation; Genetics; Biology; Pathology","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002305755,0.0009062354,0.0005308879,0.002070898,0.0003481834,0.0003470853,0.0005590405,0.001027042,0.007233141],"category_scores_gemma":[0.000966798,0.0003801095,0.0004705664,0.001042217,0.0008778417,0.0002055544,0.0005977614,0.0003576001,0.000678841],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001898428,"about_ca_system_score_gemma":0.0003003053,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00163083,"about_ca_topic_score_gemma":0.002283976,"domain_scores_codex":[0.9995741,0.00003990473,0.00006291975,0.0001027818,0.0001202141,0.0001000776],"domain_scores_gemma":[0.9993883,0.0001906719,0.0002119016,0.00003135329,0.00004096118,0.0001367139],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.002599913,0.0002961784,0.1237084,0.0001723191,0.000266262,0.4311011,0.0004548721,0.0007893387,0.4241675,0.00144706,0.001194126,0.01380283],"study_design_scores_gemma":[0.0001090995,0.0003913254,0.33389,0.00002782411,0.0002265026,0.6478463,0.000269342,0.000863297,0.01435149,0.0005753236,0.001406432,0.00004306393],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9924655,0.0003637995,0.000721022,0.0001421535,0.00002174544,0.00002344257,0.0008990181,0.00005289545,0.00531045],"genre_scores_gemma":[0.9969031,0.0001778156,0.0006052707,0.00006173062,0.00003170471,0.000009477863,0.0005222128,0.00003321997,0.001655435],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007233141,"threshold_uncertainty_score":0.02419728,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007161252543801443,"score_gpt":0.2422415137821322,"score_spread":0.2350802612383307,"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."}}