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-FiguerasYedidyah Weiss, Makiko Yasuda, Jean Charles Deybach, Robert J. Desnick

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Medicine & Life Sciences