Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.N882_N883Splc
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GAA

NM_000152.5:p.N882_N883Splc

Associated Papers

Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in Germany.

Hahn A et al.

Jimd Reports, 2015

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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."