{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.001959707,0.0008471762,0.0009841485,0.0001820135,0.0008971159,0.0001913739,0.001875153,0.001017044,0.0007849684],"category_scores_gemma":[0.002067634,0.0007720972,0.0005974105,0.0007121302,0.001539524,0.00003815113,0.001414116,0.000557568,0.0003452433],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001627334,"about_ca_system_score_gemma":0.0006172936,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001452139,"about_ca_topic_score_gemma":0.002016052,"domain_scores_codex":[0.9926177,0.001534698,0.001241916,0.001880795,0.0008157921,0.001909067],"domain_scores_gemma":[0.9943954,0.0003742102,0.0004490512,0.003127236,0.001223799,0.0004302865],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0001503542,0.0005497646,0.0002823159,0.0000756588,0.0007102736,0.000359274,0.0002546049,0.0003370658,0.9661196,0.02310421,0.002584079,0.005472802],"study_design_scores_gemma":[0.01346518,0.007701498,0.06821366,0.0001892742,0.00101713,0.008730557,0.0003023525,0.01406749,0.4436699,0.069169,0.3667192,0.006754657],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9267374,0.007677027,0.0565352,0.001873673,0.0006787315,0.002125239,0.0002129253,0.00008142769,0.00407834],"genre_scores_gemma":[0.9943866,0.0003639296,0.001766488,0.0002902519,0.0002228964,0.0007035603,0.0004294298,0.0001691716,0.001667702],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5224497,"threshold_uncertainty_score":0.999473,"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."}}