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Amedeo Smart

Independent Medical Education


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Szeri F, Miko A, Navasiolava N, Kaposi A, et al. The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals. Hum Mutat 2022;43:1872-1881.
PMID: 36317459


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