{"id":"W2172085460","doi":"10.1136/jmg.2005.039669","title":"The molecular genetics of Marfan syndrome and related disorders","year":2006,"lang":"en","type":"review","venue":"Journal of Medical Genetics","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":431,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University","funders":"National Institute of Arthritis and Musculoskeletal and Skin Diseases; Medical Research Council; Canadian Institutes of Health Research; National Institutes of Health; National Marfan Foundation; Vlaamse regering; Deutsche Forschungsgemeinschaft; Howard Hughes Medical Institute","keywords":"Fibrillin; Marfan syndrome; Connective tissue; Molecular genetics; Connective Tissue Disorder; Pathogenesis; Pathophysiology; Mutation; Medicine; Genetics; Biology; Bioinformatics; Gene; Pathology; Internal medicine","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":[0.001273568,0.0003146659,0.000928886,0.0001364393,0.00007370604,0.00003254808,0.001009402,0.0007517854,0.00003107336],"category_scores_gemma":[0.0008738586,0.000213224,0.0004859429,0.000240078,0.0005888817,0.000001614382,0.000427386,0.0007431887,0.000002199785],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002362585,"about_ca_system_score_gemma":0.0008059936,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000007852726,"about_ca_topic_score_gemma":0.00002790429,"domain_scores_codex":[0.9964796,0.0004536689,0.001205749,0.0002721663,0.001243219,0.0003456402],"domain_scores_gemma":[0.9980292,0.0001959933,0.000793421,0.0004496819,0.0002659424,0.000265715],"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":[0.00001402601,0.00008378487,0.00005498512,0.001218516,0.0005735747,0.0001107984,0.00001033031,0.000008388423,0.00008317601,0.00005166362,0.0009453139,0.9968454],"study_design_scores_gemma":[0.0004938504,0.0007255021,0.00009395276,0.001163621,0.0003890114,0.001174046,0.00002750938,0.00002493096,0.00005628206,0.0003682589,0.9952583,0.0002247398],"study_design_candidate":"design_other","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.005141611,0.9935294,0.0002538072,0.0002634064,0.0002449415,0.0003152123,0.00001438398,0.000001798686,0.000235397],"genre_scores_gemma":[0.002388229,0.9970665,0.0001551132,0.0000140179,0.00008731838,0.000006429748,0.00002522654,0.00006293163,0.0001942134],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9966207,"threshold_uncertainty_score":0.8695024,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01546303302534949,"score_gpt":0.3490478223202564,"score_spread":0.3335847892949069,"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."}}