Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.T258T
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GAA

NM_000152.5:p.T258T

Associated Papers

European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience.

van der Ploeg AT et al.

European Journal of Neurology, 2017

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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."