Article

Disruption of the nuclear localization signal in RBM20 is causative in dilated cardiomyopathy

2022-12-10

Abstract excerpt

<h4>ABSTRACT</h4> Human patients carrying genetic mutations in RNA binding motif 20 (RBM20) develop a clinically aggressive dilated cardiomyopathy (DCM). RBM20 is a splicing factor with two canonical domains, an RNA recognition motif (RRM) and an arginine-serine rich (RS) domain. RRM loss-of-function disrupts the splicing of RBM20 target transcripts and leads to systolic dysfunction without overt DCM, while mutat...

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Literature Corpus work: a1e50aa9-e1e1-570a-8886-d149a61b6a6e
DOI: 10.1101/2022.12.08.519616

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