Article

Novel <em>GLA</em> Variants: 10 Experts’ Tips for the Clinical Assessment of Fabry Disease

2026-07-23

Abstract excerpt

Increasingly sophisticated genetic panels have disproportionately increased the identification rate of novel gene variants in Mendelian conditions. In Fabry disease (FD), this phenomenon is particularly relevant because the pathogenicity of individual gene variants has an impact on treatment proposal. In fact, FD is characterized by a phenotypical heterogeneity depending on patients' biological sex and the underly...

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Literature Corpus work: 5008ecdf-c280-5dc1-85b3-ecc911892813
DOI: 10.20944/preprints202607.1729.v1

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