Article

Improving molecular diagnosis of fabry disease: functional validation of novel splicing variants in GLA

2026-08-13

Abstract excerpt

Abstract Background Fabry disease (FD) is an X-linked lysosomal storage disorder caused by pathogenic variants in the GLA gene. Although genetic testing is the gold standard for FD diagnosis, the identification of numerous splicing variants of unknown pathogenicity poses a significant diagnostic challenge. This uncertainty limits the clinical utility of sequencing in guiding patient management and therapeutic inte...

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Literature Corpus work: 6684b2fb-1562-55c6-b089-f7c0d4757667
DOI: 10.1186/s13023-026-04512-1

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