Ontology highlight
ABSTRACT:
SUBMITTER: Parikh VN
PROVIDER: S-EPMC6422044 | biostudies-literature | 2019 Mar
REPOSITORIES: biostudies-literature
Parikh Victoria N VN Caleshu Colleen C Reuter Chloe C Lazzeroni Laura C LC Ingles Jodie J Garcia John J McCaleb Kristen K Adesiyun Tolulope T Sedaghat-Hamedani Farbod F Kumar Saurabh S Graw Sharon S Gigli Marta M Stolfo Davide D Dal Ferro Matteo M Ing Alexander Y AY Nussbaum Robert R Funke Birgit B Wheeler Matthew T MT Hershberger Ray E RE Cook Stuart S Steinmetz Lars M LM Lakdawala Neal K NK Taylor Matthew R G MRG Mestroni Luisa L Merlo Marco M Sinagra Gianfranco G Semsarian Christopher C Meder Benjamin B Judge Daniel P DP Ashley Euan E
Circulation. Heart failure 20190301 3
Background Variants in the cardiomyocyte-specific RNA splicing factor RBM20 have been linked to familial cardiomyopathy, but the causative genetic architecture and clinical consequences of this disease are incompletely defined. Methods and Results To define the genetic architecture of RBM20 cardiomyopathy, we first established a database of RBM20 variants associated with cardiomyopathy and compared these to variants observed in the general population with respect to their location in the RBM20 c ...[more]