Hypothesis

1 Matching Annotations

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

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

1
1. jsberg 20 Jul 2017
  
  in Public
  
  c.1021G > A, p.G341R
  
  http://gnomad.broadinstitute.org/variant/1-222736579-C-T Total: 7/245186, 0 homozygotes; MAF = 0.00002855
  
  GnomAD CA1406110
Visit annotations in context

Tags

CA1406110

GnomAD

Annotators

jsberg

URL

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