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Novel mutation c.263A>G in the ACVRL1 gene in a Japanese patient with hereditary hemorrhagic telangiectasia 2.

Aya YaginumaMunenari ItohEijiro AkasakaHajime NakanoDaisuke SawamuraHidemi NakagawaAkihiko Asahina
Published in: The Journal of dermatology (2018)
Keyphrases
  • case report
  • genome wide
  • copy number
  • genome wide identification