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Establishing disease causality for a novel gene variant in familial dilated cardiomyopathy using a functional in-vitro assay of regulated thin filaments and human cardiac myosin

  • Author(s): Miller, Susan
  • Pan, S
  • Sommese, RF
  • Sallam, KI
  • Nag, S
  • Sutton, S
  • Miller, SM
  • Spudich, JA
  • Ruppel, KM
  • Ashley, EA
  • et al.

Published Web Location

http://europepmc.org/articles/PMC4620603?pdf=render
No data is associated with this publication.
Abstract

BACKGROUND: As next generation sequencing for the genetic diagnosis of cardiovascular disorders becomes more widely used, establishing causality for putative disease causing variants becomes increasingly relevant. Diseases of the cardiac sarcomere provide

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