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Jul 2017
academic.oup.com academic.oup.com

Recessive TAF1A mutations reveal ribosomopathy in siblings with end-stage pediatric dilated cardiomyopathy

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1. jsberg 20 Jul 2017
  
  in Public
  
  Autosomal recessive dilated cardiomyopathy https://www.omim.org/entry/604903
  
  ClinGen DCM OMIM_*604903 Genetic_Evidence Functional_Evidence
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jsberg

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academic.oup.com/hmg/article/26/15/2874/3788346/Recessive-TAF1A-mutations-reveal-ribosomopathy-in