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Original article
Genome sequencing reveals a deep intronic splicing ACVRL1 mutation hotspot in Hereditary Haemorrhagic Telangiectasia

Authors

  1. Correspondence to Dr Pinar Bayrak-Toydemir, Molecular Genetics Department, ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT 84108, USA; pinar.bayrak-toydemir{at}aruplab.com
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Citation

Wooderchak-Donahue WL, McDonald J, Farrell A, et al
Genome sequencing reveals a deep intronic splicing ACVRL1 mutation hotspot in Hereditary Haemorrhagic Telangiectasia

Publication history

  • Received June 26, 2018
  • Revised August 14, 2018
  • Accepted August 23, 2018
  • First published September 22, 2018.
Online issue publication 
November 22, 2018

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