Article

A Multi-State Structural Genomics Approach Enables Large-Scale, Mechanistic, and Context-Specific Classification of ABCC6 Genetic Variants Implicated in Calcification Diseases

2025-06-23

Abstract excerpt

<h4>Purpose</h4> Genetic variation in ATP Binding Cassette Subfamily C Member 6 (ABCC6) can cause both pseudoxanthoma elasticum (PXE) and generalized arterial calcification of infancy (GACI). Despite both diseases being rare, there are already 930 distinct missense variants in ABCC6 reported, 87% of which are of uncertain clinical significance (VUS). New approaches are needed to interpret and classify these VUS m...

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Literature Corpus work: acbb796c-86af-5ed8-8fce-8e5267258c27
DOI: 10.1101/2025.06.17.660194

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