Article

The pathogenic p.R391G ABCC6 displays incomplete penetrance implying the necessity of an interacting partner for the development of pseudoxanthoma elasticum

2020-11-30

Abstract excerpt

ABCC6 promotes the efflux of ATP from hepatocytes to the bloodstream. ATP is then cleaved to AMP and pyrophosphate, a major inhibitor of ectopic calcification. Pathogenic variants of ABCC6 cause pseudoxanthoma elasticum, a recessive ectopic calcification disease of highly variable severity. One of the mechanisms influencing the heterogeneity of a disorder is the penetrance of pathogenic variants. Penetrance shows...

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Literature Corpus work: f59b460e-743a-590c-9afe-47829041d6fa
DOI: 10.1101/2020.11.26.20236489

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