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

Autor: Chen, Brenden, Whatley, Sharon, Badminton, Michael, Aarsand, Aasne K., Anderson, Karl E., Bissell, D. Montgomery, Bonkovsky, Herbert L., Cappellini, Maria D., Floderus, Ylva, Friesema, Edith C.H., Gouya, Laurent, Harper, Pauline, Kauppinen, Raili, Loskove, Yonina, Martásek, Pavel, Phillips, John D., Puy, Hervé, Sandberg, Sverre, Schmitt, Caroline, To-Figueras, Jordi, Weiss, Yedidyah, Yasuda, Makiko, Deybach, Jean-Charles, Desnick, Robert J.
Zdroj: In Genetics in Medicine November 2019 21(11):2605-2613
Databáze: ScienceDirect
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