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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
      c.1021G > A, p.G341R

      http://gnomad.broadinstitute.org/variant/1-222736579-C-T Total: 7/245186, 0 homozygotes; MAF = 0.00002855

      GnomAD CA1406110
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    academic.oup.com/hmg/article/26/15/2874/3788346/Recessive-TAF1A-mutations-reveal-ribosomopathy-in