Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.E215*
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GAA

NM_000152.5:p.E215*

Associated Papers

Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations.

Oba-Shinjo SM et al.

Journal of Neurology, 2009

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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."