Associated Papers
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.
Szeri F et al.
Human Mutation, 2022
36317459 (PubMed )
Supplement: HUMU-43-1872-s002.xlsx › 1A
Select a paper to view details