{"id":"W7112590876","doi":"","title":"The TMEM43 Newfoundland mutation p.S358L causing ARVC-5 was imported from Europe and increases the stiffness of the cell nucleus","year":2015,"lang":"en","type":"article","venue":"PUB – Publications at Bielefeld University (Bielefeld University)","topic":"Cardiovascular Effects of Exercise","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Mutation; Missense mutation; Haplotype; Founder effect; Cell; Phenotype; Gene","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004579101,0.0002629979,0.0003604479,0.0003286984,0.001161793,0.0001232271,0.0006716734,0.0001664979,0.00003760602],"category_scores_gemma":[0.0005166586,0.000187788,0.000278712,0.002007938,0.0006451144,0.0004992227,0.0008047365,0.0003748771,0.00001289971],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004947542,"about_ca_system_score_gemma":0.000502878,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005812159,"about_ca_topic_score_gemma":0.002588699,"domain_scores_codex":[0.9979758,0.0003952742,0.0002312246,0.0004826401,0.0005510686,0.0003639814],"domain_scores_gemma":[0.996446,0.0006617276,0.0003310064,0.001340508,0.0008826389,0.0003380796],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"not_applicable","study_design_scores_codex":[0.009954945,0.003573949,0.7246093,0.0004591495,0.006381834,0.001697254,0.01127145,0.001366095,0.01170251,0.06316709,0.1187771,0.04703938],"study_design_scores_gemma":[0.003943341,0.00008587843,0.3954861,0.00006158675,0.001480669,0.0001001795,0.003570991,0.000463998,0.0004925755,0.0000669927,0.5939125,0.0003351572],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9711392,0.0004024813,0.0002619719,0.006578906,0.0001761808,0.0009137888,0.00009403799,0.0001200654,0.02031337],"genre_scores_gemma":[0.9858731,0.0003764771,0.0001107281,0.0001398247,0.00007027793,9.464061e-7,0.0001171578,0.0000275915,0.01328389],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4751354,"threshold_uncertainty_score":0.8935692,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01453195866966088,"score_gpt":0.194620646772487,"score_spread":0.1800886881028261,"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."}}