Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.P669R
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GAA

NM_000152.5:p.P669R

Associated Papers

Pompe disease: a country-wide molecular screening in a cohort of 15,068 study participants.

Pushkov A et al.

Frontiers in Molecular Biosciences, 2025

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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."