Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.E139Q
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GAA

NM_000152.5:p.E139Q

Associated Papers

Providing the conduit for treatment: The impact of vascular access and vein preservation in a 5-year-old child with prenatally diagnosed CRIM-negative Infantile Pompe disease.

Ostroff M et al.

The Journal of Vascular Access, 2021

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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."