HuGE Literature Finder
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Pseudoxanthoma elasticum: Wide phenotypic variation in homozygotes and no signs in heterozygotes for the c.3775delT mutation in ABCC6. Genetics in medicine : official journal of the American College of Medical Genetics 2009 Dec 11 (12): 852-8. Plomp Astrid S, Bergen Arthur A B, Florijn Ralph J, Terry Sharon F, Toonstra Johan, van Dijk Marijke R, de Jong Paulus T V |
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- Page last updated:Feb 07, 2023
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