Clinical and Biochemical Characterization of Fabry Disease Associated GLA Gene Variants: Data From a Large Cohort of 469 Thousand Genotyped Subjects of the UK Biobank Database.

The present data, including 167 hemizygous males and 238 heterozygous females (Figure 1 and Figure S2A–F ), indicated a paradoxical protective effect of this variant in both genders, with a negative trend for all the FDF score items.

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