Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.D616delFs
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GAA

NM_000152.5:p.D616delFs

Associated Papers

Pompe disease ascertained through The Lantern Project, 2018-2021: Next-generation sequencing and enzymatic testing to overcome obstacles to diagnosis.

Sniderman King L et al.

Molecular Genetics and Metabolism, 2023

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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."