{"id":"W4211166653","doi":"10.1093/ehjcr/ytac063","title":"A previously undescribed pathogenic variant in FBN1 gene causing Marfan syndrome: a case report","year":2022,"lang":"en","type":"article","venue":"European Heart Journal - Case Reports","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Manitoba; McMaster University","funders":"","keywords":"Marfan syndrome; Fibrillin; Medicine; Genetic testing; Aortic dissection; Genetic diagnosis; Connective tissue; Gene; Genetic counseling; Intervention (counseling); Bioinformatics; Intensive care medicine; Genetics; Pathology; Internal medicine; Biology; Aorta","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":[0.0005738682,0.002711986,0.001534849,0.00413666,0.00287637,0.002425543,0.00170889,0.007094389,0.003033833],"category_scores_gemma":[0.003275452,0.001335796,0.001670459,0.001689406,0.002749896,0.002395374,0.001968846,0.003676165,0.001063089],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001418577,"about_ca_system_score_gemma":0.0009242948,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001889438,"about_ca_topic_score_gemma":0.002068836,"domain_scores_codex":[0.9990113,0.0001047912,0.00008959042,0.0002942721,0.0001665728,0.0003334756],"domain_scores_gemma":[0.9980375,0.0006191119,0.0004427934,0.0001988241,0.0001039646,0.0005977081],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.00001145757,0.00002065599,0.001414147,0.00001427521,0.00000542768,0.9973865,0.00008937086,0.00003134891,0.0003816499,0.0001105404,0.0001276921,0.0004069786],"study_design_scores_gemma":[0.000005485114,0.00002163541,0.001321111,0.000007021438,0.000008100422,0.9980349,0.0000415639,0.00009523849,0.0001394346,0.00007893237,0.0002404341,0.000006294241],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.974793,0.008484951,0.003639607,0.004201589,0.0006125967,0.0001933068,0.0003353943,0.0002477216,0.007491829],"genre_scores_gemma":[0.9922437,0.002057936,0.001908333,0.00071415,0.0013385,0.00004109682,0.0001007181,0.00002654777,0.001568907],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007094389,"threshold_uncertainty_score":0.01029253,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03821841949695499,"score_gpt":0.3126920199532554,"score_spread":0.2744736004563004,"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."}}