Article

A New Class of Pathogenic Non-Coding Variants in GLA—LRS Reveals Non-Coding Variants in Fabry Disease

2025-12-24

Abstract excerpt

<h4>Background: </h4> Fabry disease (FD) exhibits a spectrum of clinical manifestations ranging from mild to severe, posing a diagnostic challenge, particularly in non-classic subtypes. Genetic testing remains a gold standard for precise diagnosis of FD and is pivotal in genetic counseling. Although conventional approaches such as Sanger sequencing and short-read next-generation sequencing (NGS) have been successf...

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Literature Corpus work: 0d3c82a3-a154-5001-b857-306f53126166
DOI: 10.20944/preprints202512.2256.v1

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