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Article

Genetic variants of unknown significance in alpha-galactosidase A: Cellular delineation from Fabry disease.

Journal of inherited metabolic disease - 1 Jul 2024

Klein Alexandra, Klug Katharina, Breyer Maximilian, Grüner Julia, Medala Vijay Krishna, Nordbeck Peter, Wanner Christoph, Klopocki Eva, Üçeyler Nurcan

Abstract excerpt

Fabry disease (FD) is an X-linked multiorgan disorder caused by variants in the alpha-galactosidase A gene (GLA). Depending on the variant, disease phenotypes range from benign to life-threatening. More than 1000 GLA variants are known, but a link between genotype and phenotype in FD has not yet been established for all. p.A143T, p.D313Y, and p.S126G are frequent examples of variants of unknown significance...

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Identifiers

PMID: 38618884
DOI: 10.1002/jimd.12743

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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