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International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias

  • Brenden Chen
  • , Sharon Whatley
  • , Michael Badminton
  • , Aasne K. Aarsand
  • , Karl E. Anderson
  • , D. Montgomery Bissell
  • , Herbert L. Bonkovsky
  • , Maria D. Cappellini
  • , Ylva Floderus
  • , Edith C.H. Friesema
  • , Laurent Gouya
  • , Pauline Harper
  • , Raili Kauppinen
  • , Yonina Loskove
  • , Pavel Martásek
  • , John D. Phillips
  • , Hervé Puy
  • , Sverre Sandberg
  • , Caroline Schmitt
  • , Jordi To-Figueras
    • Yedidyah Weiss, Makiko Yasuda, Jean Charles Deybach, Robert J. Desnick

Research output: Contribution to journal › Article › peer-review

21   Link opens in a new tab Scopus citations

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Medicine and Dentistry