Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.R608fs
Back to variants list

GAA

NM_000152.5:p.R608fs

Associated Papers

GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.

Reuser AJJ et al.

Human Mutation, 2019

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."