Is the Alpha-Galactosidase A Variant p.Asp313Tyr (p.D313Y)...

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Journal of Inherited Metabolic Disease 2020 / 04

Is the Alpha-Galactosidase A Variant p.Asp313Tyr (p.D313Y) Pathogenic for Fabry Disease? A systematic review

Effraimidis, Grigoris, Rasmussen, Åse Krogh, Bundgaard, Henning, Sorensen, Soren Schwartz, Feldt-Rasmussen, Ulla
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Journal:
Journal of Inherited Metabolic Disease
DOI:
10.1002/jimd.12240
Date:
April, 2020
File:
PDF, 2.08 MB
2020
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