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Phenotypic Variability and the Gender Paradox in the R363C Variant of Fabry Disease

Alison C. Leslie,Jeanine Jarnes, Alia Ahmed, Sofia Shrestha, Jeffrey Wang,Chester B. Whitley,Nishitha R. Pillai

JIMD REPORTS（2025）

Cited 0|Views1
Key words
Fabry disease,genetic modifiers,kidney disease,Lyso-GL-3,phenotypic variability
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