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Article

Usefulness of PPi levels to interpret variants of unknown significance and incomplete penetrant alleles in the ABCC6 gene.

Clinica chimica acta; international journal of clinical chemistry - 15 Sept 2026

Van Wynsberghe Judith, De Zaeytijd Julie, Verschuere Shana, Van Gils Matthias, De Backer Tine, Hemelsoet Dimitri, Vanakker Olivier

Abstract excerpt

Pseudoxanthoma elasticum is usually caused by biallelic pathogenic variants in ABCC6, leading to reduced ATP transport and decreased levels of circulating calcification inhibitor inorganic pyrophosphate. Variants of unknown significance and incomplete penetrant variants complicate genetic counseling. This study assessed whether plasma pyrophosphate levels can aid in interpreting their pathogenicity or penetrance....

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Alleles
Diphosphates
ABCC6 gene
Genetic Variation
Pseudoxanthoma Elasticum

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42229705
DOI: 10.1016/j.cca.2026.121135

Genes

ABCC6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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