{"id":"W2595109880","doi":"10.1002/ajmg.c.31550","title":"The Ehlers–Danlos syndromes, rare types","year":2017,"lang":"en","type":"review","venue":"American Journal of Medical Genetics Part C Seminars in Medical Genetics","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":242,"is_retracted":false,"has_abstract":true,"ca_institutions":"Dalhousie University; Hospital for Sick Children","funders":"Vlaamse regering; Ehlers-Danlos Society; Ehlers-Danlos National Foundation","keywords":"Joint hypermobility; Ehlers–Danlos syndrome; Genetic heterogeneity; Medicine; Connective tissue; Phenotype; Nosology; Dermatology; Extracellular matrix; Connective Tissue Disorder; Pathology; Genetics; Biology; Gene; 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":[0.0003533399,0.0007630654,0.001109933,0.003316645,0.0003157622,0.0009234067,0.0006543411,0.0008461137,0.003508693],"category_scores_gemma":[0.0009104872,0.0001990129,0.0003534222,0.002068143,0.0005906426,0.001089594,0.0005924329,0.001243535,0.001866765],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000495922,"about_ca_system_score_gemma":0.001110279,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00104906,"about_ca_topic_score_gemma":0.001544348,"domain_scores_codex":[0.9997808,0.00002528439,0.00004536609,0.00003853593,0.00008387302,0.0000259913],"domain_scores_gemma":[0.9997299,0.0001130498,0.0000539574,0.00000884936,0.00005857037,0.00003560542],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00006306612,0.00003482015,0.000745655,0.007698252,0.00006596747,0.002153945,0.0001023562,0.0002214521,0.0009857536,0.004103624,0.04224722,0.941578],"study_design_scores_gemma":[0.00002229104,0.00003241194,0.001782814,0.004422417,0.00009413813,0.03102065,0.0001481625,0.00005007531,0.0002974773,0.003274867,0.958836,0.00001877244],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0002759002,0.9963839,0.0001916229,0.0003385449,0.0002737649,0.000006555787,0.00003426761,0.00001249063,0.002483007],"genre_scores_gemma":[0.002155416,0.9955924,0.0002837753,0.0003189713,0.0003908566,0.000007901876,0.00008495683,0.000002751732,0.001162888],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.003508693,"threshold_uncertainty_score":0.0117377,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06232023605826254,"score_gpt":0.4289042403204548,"score_spread":0.3665840042621922,"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."}}