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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.251T > C, p.L84S

      http://gnomad.broadinstitute.org/variant/1-222757510-A-G Total: 9/273566, 0 homozygotes; MAF = 0.00003290

      GnomAD CA1406362
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    academic.oup.com/hmg/article/26/15/2874/3788346/Recessive-TAF1A-mutations-reveal-ribosomopathy-in