{"id":"W2076714665","doi":"10.1159/000347163","title":"The c.7409G>A (p.Cys2470Tyr) Variant of <b><i>FBN1</i></b>: Phenotypic Variability across Three Generations","year":2013,"lang":"en","type":"article","venue":"Molecular Syndromology","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":6,"is_retracted":false,"has_abstract":true,"ca_institutions":"BC Children's Hospital; Child and Family Research Institute; University of British Columbia","funders":"Institute of Nutrition, Metabolism and Diabetes; Canadian Institutes of Health Research","keywords":"Missense mutation; Marfan syndrome; Exon; Genetics; Fibrillin; Ehlers–Danlos syndrome; Phenotype; Mutation; Biology; Arachnodactyly; Ectopia lentis; Medicine; 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001413387,0.001229891,0.000424802,0.0009037094,0.0009980097,0.0003203532,0.0004554876,0.001049098,0.003114209],"category_scores_gemma":[0.0009230039,0.000211451,0.0004449937,0.0005042304,0.0006292873,0.0002260957,0.0005110835,0.0008003486,0.0004303792],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003480586,"about_ca_system_score_gemma":0.000279113,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005085897,"about_ca_topic_score_gemma":0.003283966,"domain_scores_codex":[0.999707,0.00003095677,0.00002625456,0.0001238249,0.00006158475,0.00005030486],"domain_scores_gemma":[0.9996346,0.0001006584,0.00009981151,0.00001786941,0.00002810446,0.0001188579],"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":[0.0004452599,0.0004241577,0.1116955,0.00008679179,0.0001679665,0.7505813,0.002352785,0.0005406038,0.1116583,0.001042948,0.002233,0.01877134],"study_design_scores_gemma":[0.00005228119,0.0004788475,0.2488406,0.00004496247,0.0001445955,0.7308914,0.0003924834,0.000801116,0.01266739,0.0003530514,0.005272525,0.00006076639],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9950577,0.0003061481,0.001354231,0.0002862574,0.000058046,0.00004748455,0.000437039,0.00004831584,0.002404802],"genre_scores_gemma":[0.9972633,0.0001230349,0.0008655977,0.000147125,0.00004150366,0.00001482251,0.000180613,0.0000175031,0.001346615],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005085897,"threshold_uncertainty_score":0.01041812,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01151645216041466,"score_gpt":0.2667616782246186,"score_spread":0.255245226064204,"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."}}