{"id":"W2047157608","doi":"10.1002/humu.20459","title":"Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies","year":2007,"lang":"en","type":"article","venue":"Human Mutation","topic":"Skin and Cellular Biology Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":96,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"National Institutes of Health; National Institute of Neurological Disorders and Stroke; Deutsche Forschungsgemeinschaft","keywords":"Desmin; Intermediate filament; Biology; Protein filament; Mutant; Cytoskeleton; Molecular biology; Plectin; Myocyte; Transfection; Cell biology; Intermediate Filament Protein; Skeletal muscle; Actin; Anatomy; Gene; Genetics; Cell; Vimentin; Immunology","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003788657,0.00006157957,0.00008133934,0.00008326465,0.00005629287,0.000005752348,0.0000431094,0.00008064889,0.00001197804],"category_scores_gemma":[0.00004097657,0.00006321035,0.00003003571,0.00006281575,0.0001867418,0.000002880425,0.00004093755,0.0000513261,0.000002508762],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001023815,"about_ca_system_score_gemma":0.0000229424,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00007938042,"about_ca_topic_score_gemma":0.0002673655,"domain_scores_codex":[0.9994366,0.00005574251,0.0001544465,0.0001508911,0.00007425932,0.0001280697],"domain_scores_gemma":[0.9997601,0.00001635356,0.00004534201,0.00008949626,0.00005688527,0.00003182682],"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":[0.00003351269,0.00006183948,0.09778088,0.00002896819,0.00002974793,0.00002590799,0.0005225199,0.00001264256,0.8951169,0.0007341184,0.00004787304,0.005605041],"study_design_scores_gemma":[0.001184682,0.0005419786,0.3766472,0.00001992082,0.00002420676,0.00001699263,0.003605477,0.00002657356,0.6163927,0.0006302417,0.0007237063,0.0001862461],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9983168,0.0006002862,0.0004087788,0.00001232051,0.00003572923,0.0001443236,0.000007196511,0.000003439971,0.0004710953],"genre_scores_gemma":[0.999282,0.00004533694,0.0001751561,0.0000156099,0.00003607097,0.000009626924,0.0002812984,0.000005403665,0.0001494799],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2788664,"threshold_uncertainty_score":0.2577643,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01903981969628973,"score_gpt":0.2941011714596921,"score_spread":0.2750613517634024,"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."}}