Article

Functional screening of ZIP8 naturally occurring variants identifies pathogenic mutations and trafficking defects

2026-05-14

Abstract excerpt

The rapid expansion of human genomic data has revealed a large number of naturally occurring variants, creating a major challenge for functional annotation. The human metal transporter SLC39A8 (ZIP8) is a clinically important, promiscuous divalent metal transporter, yet most of its documented variants remain uncharacterized. Here, we developed a workflow to functionally evaluate ZIP8 variants by integrating laser...

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Literature Corpus work: ec1eae87-8e77-555b-a4f0-60fc0fabc05b
DOI: 10.64898/2026.05.11.724455

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