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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Nov 29, 2023. (Total: 223447Documents)
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Query Trace: Skin Abnormalities and ABCC6[original query]
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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