Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.G259V
Back to variants list

GAA

NM_000152.5:p.G259V

Associated Papers

Structure of human lysosomal acid α-glucosidase-a guide for the treatment of Pompe disease.

Roig-Zamboni V et al.

Nature Communications, 2017

29061980 (PubMed )
Supplement: 41467_2017_1263_MOESM1_ESM.pdf

Structural modeling of mutant alpha-glucosidases resulting in a processing/transport defect in Pompe disease.

Sugawara K et al.

Journal of Human Genetics, 2009

Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.

Kroos M et al.

Human Mutation, 2008

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."