Varaico: Literature-Extracted Genetic Variants

Gene:GPT
Variant:p.F439Y
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GPT

NM_005309.3:p.F439Y

Associated Papers

Clinical and molecular characterization of Korean children with infantile and late-onset Pompe disease: 10 years of experience with enzyme replacement therapy at a single center.

Kim MS et al.

Korean Journal of Pediatrics, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."