{"id":"W2208136915","doi":"10.1002/humu.22942","title":"Mutations in<i>FLNC</i>are Associated with Familial Restrictive Cardiomyopathy","year":2015,"lang":"en","type":"article","venue":"Human Mutation","topic":"Cardiomyopathy and Myosin Studies","field":"Medicine","cited_by":178,"is_retracted":false,"has_abstract":true,"ca_institutions":"Child and Family Research Institute; Calgary Laboratory Services; Alberta Children's Hospital; McGill University and Génome Québec Innovation Centre; University of British Columbia; Alberta Health Services; University of Calgary; Libin Cardiovascular Institute of Alberta","funders":"Libin Cardiovascular Institute, University of Calgary; Canadian Institutes of Health Research; Alberta Innovates - Health Solutions","keywords":"Filamin; Biology; Missense mutation; Restrictive cardiomyopathy; Cardiomyopathy; Genetics; Heart failure; Phenotype; Gene; Internal medicine; Cell; 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":[],"consensus_categories":[],"category_scores_codex":[0.0002746738,0.0001420151,0.0003295914,0.0002201146,0.0001197631,0.00002004023,0.00003485068,0.00007276226,0.0000037996],"category_scores_gemma":[0.000365081,0.0001266742,0.00006861092,0.0004911896,0.00009669031,0.0001334705,0.00002038517,0.0001673343,0.00001865455],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003285208,"about_ca_system_score_gemma":0.0001288658,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001580893,"about_ca_topic_score_gemma":0.000383702,"domain_scores_codex":[0.9988692,0.00009859658,0.0002213135,0.0002428667,0.0003679756,0.0002],"domain_scores_gemma":[0.9991541,0.0000613458,0.0001210387,0.0001524504,0.000410556,0.0001005022],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001373756,0.0009883819,0.9206476,0.0001187789,0.0009250175,0.004164419,0.05003548,0.003200892,0.001893816,0.001864463,0.008217689,0.006569687],"study_design_scores_gemma":[0.004633122,0.0005126878,0.98329,0.000168638,0.000260058,0.00006875848,0.009422895,0.00008010588,0.0002018494,0.0009003505,0.0002867813,0.000174784],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9866729,0.0002111294,0.0002383133,0.0001754854,0.0001295878,0.0004484692,0.00002061338,0.00010632,0.01199722],"genre_scores_gemma":[0.9989182,0.000006471009,0.0001169654,0.000105669,0.0001583533,0.00008875141,0.0002194567,0.00002160801,0.00036454],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.06264234,"threshold_uncertainty_score":0.5165625,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0449170522084917,"score_gpt":0.2952564971683305,"score_spread":0.2503394449598388,"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."}}