{"id":"W2986884308","doi":"10.3390/genes10110918","title":"Restrictive Cardiomyopathy is Caused by a Novel Homozygous Desmin (DES) Mutation p.Y122H Leading to a Severe Filament Assembly Defect","year":2019,"lang":"en","type":"article","venue":"Genes","topic":"Skin and Cellular Biology Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":66,"is_retracted":false,"has_abstract":true,"ca_institutions":"Libin Cardiovascular Institute of Alberta; University of Calgary","funders":"Universität zu Köln; Universität Bielefeld; Deutsche Forschungsgemeinschaft","keywords":"Desmin; Mutation; Biology; Genetics; Mutant; Missense mutation; Molecular biology; Population; Intermediate filament; Point mutation; Gene; Medicine; Immunology; Cell; Cytoskeleton","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":[0.00007963131,0.0007627648,0.0002818986,0.0005071266,0.0003252758,0.0001397973,0.0002068611,0.0004181534,0.001467777],"category_scores_gemma":[0.0003005507,0.0001480292,0.00024932,0.0003112876,0.0003652244,0.0001365208,0.000274529,0.0002683206,0.0003283882],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001111157,"about_ca_system_score_gemma":0.0001208424,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004758849,"about_ca_topic_score_gemma":0.0006213614,"domain_scores_codex":[0.9999146,0.00001186239,0.000008880113,0.00003176981,0.00001654836,0.00001631618],"domain_scores_gemma":[0.9998713,0.00002911051,0.0000559307,0.000009263726,0.000006556167,0.00002791223],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0003009473,0.0001032839,0.05204853,0.0001910642,0.00007759534,0.6671007,0.0004218595,0.000381379,0.2462725,0.0007230568,0.0009909497,0.03138821],"study_design_scores_gemma":[0.00002621743,0.0001953476,0.05902465,0.00001800477,0.00005149305,0.9176216,0.00010509,0.0004345205,0.0193659,0.0002180994,0.002923868,0.00001514148],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9936762,0.000986445,0.002615305,0.0001739035,0.00003932481,0.00002947419,0.0001627599,0.0001338834,0.002182672],"genre_scores_gemma":[0.9977694,0.0004248479,0.001060599,0.00005990039,0.00004462283,0.00000825992,0.0001042906,0.000009853847,0.000518212],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001467777,"threshold_uncertainty_score":0.004910171,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01470662902517466,"score_gpt":0.2724794536473469,"score_spread":0.2577728246221722,"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."}}