All reported non-canonical splice site variants in GLA cause aberrant splicing.
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DOI: 10.2139/ssrn.4282750
Abstract: BACKGROUND Fabry disease is an X-linked lysosomal storage disorder caused by insufficient α-galactosidase A (GLA) activity resulting from variants in the GLA gene, which leads to glycosphingolipid accumulation and life-threatening, multi-organ complications. Approximately 50 variants… read more here.
Keywords: canonical splice; variants gla; splice; non canonical ... See more keywords