{"id":"W1985799942","doi":"10.1038/sj.ejhg.5201314","title":"Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations","year":2004,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":38,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hospital for Sick Children","funders":"Canadian Institutes of Health Research; Canadian Arthritis Network; Suomalainen Lääkäriseura Duodecim; Novo Nordisk; Academy of Finland; Finska Läkaresällskapet; European Commission; Arthritis Foundation","keywords":"Phenotype; Mutation; Genetics; Biology; Gene; Osteochondrodysplasia; Dysplasia; Genetic heterogeneity; Mutation testing","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":[0.0001940092,0.0008144225,0.0005410688,0.001298107,0.0008156974,0.0005140256,0.0004231754,0.0009511313,0.003514815],"category_scores_gemma":[0.00190203,0.0002077733,0.0003624855,0.000568044,0.000912932,0.0004730857,0.0007678864,0.0004348999,0.0005595562],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001546866,"about_ca_system_score_gemma":0.0002382791,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002846287,"about_ca_topic_score_gemma":0.0003500019,"domain_scores_codex":[0.9997035,0.00003658253,0.00003191272,0.00009697046,0.00005032916,0.00008069104],"domain_scores_gemma":[0.9990497,0.0003302829,0.0002695834,0.00007078615,0.00005432629,0.0002252821],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0022197,0.0001884339,0.7835823,0.00006746164,0.00008045515,0.1181815,0.0007545894,0.000348991,0.08125209,0.001457798,0.0007061426,0.01116051],"study_design_scores_gemma":[0.00006649319,0.0005622954,0.6596292,0.0000284875,0.0001308837,0.330033,0.0007358774,0.0006009231,0.004896046,0.001448852,0.001818714,0.00004924653],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9969199,0.0001459511,0.000237162,0.00008719011,0.00001020915,0.000008915266,0.0001720461,0.00001618622,0.002402523],"genre_scores_gemma":[0.9991909,0.00006361929,0.0001712469,0.00003436986,0.00002664563,0.000006524252,0.0001873207,0.000009251457,0.0003102229],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003514815,"threshold_uncertainty_score":0.01175827,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02000576994665628,"score_gpt":0.2715211611617451,"score_spread":0.2515153912150888,"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."}}