{"id":"W7074111815","doi":"","title":"Reduced Age-Dependent Penetrance of a Large FGF14 GAA Repeat Expansion in a 74-Year-Old Woman from a German Family with SCA27B.","year":2024,"lang":"en","type":"article","venue":"DZNE Pub","topic":"Parathyroid Disorders and Treatments","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"Servier; Natural Science Foundation of Fujian Province; Canadian Institutes of Health Research; Else Kröner-Fresenius-Stiftung; Deutsche Forschungsgemeinschaft; Eli Lilly and Company","keywords":"Penetrance; Disease; Mutation; Identification (biology); German","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001246661,0.0002065848,0.0003891966,0.0001778796,0.00003207056,0.00003014046,0.00008894349,0.000090628,0.00004600028],"category_scores_gemma":[0.00001595859,0.0001572393,0.00008663243,0.0002991662,0.00003454777,0.0001090803,0.0000371535,0.0001983871,0.00008237042],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00007024591,"about_ca_system_score_gemma":0.0001033768,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000941869,"about_ca_topic_score_gemma":0.0006179456,"domain_scores_codex":[0.9985054,0.00004129762,0.0002900659,0.0004765018,0.0003609116,0.0003258751],"domain_scores_gemma":[0.99933,0.00003082786,0.00005500773,0.0004304739,0.00003133317,0.0001222966],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.006469055,0.007147687,0.2167556,0.0005881446,0.001541077,0.01943599,0.02177366,0.00006421687,0.6915694,0.001514844,0.02431412,0.008826102],"study_design_scores_gemma":[0.01716099,0.001328198,0.9504626,0.001203904,0.0003418916,0.00008168033,0.00138883,0.0009323909,0.02132048,0.0006596474,0.004584699,0.000534736],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9839814,0.01111526,0.00005280802,0.0002952747,0.0001021368,0.0004666629,0.00007686477,0.00008254967,0.003826989],"genre_scores_gemma":[0.9968391,0.0003622898,0.0002627386,0.0002212048,0.0000565097,0.00007687176,0.0001313656,0.00004091652,0.00200901],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7337069,"threshold_uncertainty_score":0.6412032,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01295814154123274,"score_gpt":0.2894687022252291,"score_spread":0.2765105606839964,"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."}}