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5. International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias. Chen B; Whatley S; Badminton M; Aarsand AK; Anderson KE; Bissell DM; Bonkovsky HL; Cappellini MD; Floderus Y; Friesema ECH; Gouya L; Harper P; Kauppinen R; Loskove Y; Martásek P; Phillips JD; Puy H; Sandberg S; Schmitt C; To-Figueras J; Weiss Y; Yasuda M; Deybach JC; Desnick RJ Genet Med; 2019 Nov; 21(11):2605-2613. PubMed ID: 31073229 [TBL] [Abstract][Full Text] [Related]
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