Cite
HARVARD Citation
Szeri, F. et al. (2022). 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. Human mutation. 43 (12), pp. 1872-1881. [Online].