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  1. Jul 2017
  2. 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

      Autosomal recessive dilated cardiomyopathy https://www.omim.org/entry/604903

      ClinGen DCM OMIM_*604903 Genetic_Evidence Functional_Evidence
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    academic.oup.com/hmg/article/26/15/2874/3788346/Recessive-TAF1A-mutations-reveal-ribosomopathy-in