Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.G651fs
Back to variants list

GAA

NM_000152.5:p.G651fs

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

41695778 (PubMed )
Supplement: Table1.xlsx › Sheet1

Are Anti-rhGAA Antibodies a Determinant of Treatment Outcome in Adults with Late-Onset Pompe Disease? A Systematic Review.

Ditters IAM et al.

Biomolecules, 2023

37759814 (PubMed )
Supplement: biomolecules-13-01414-s001.zip › Supplementary_Table_S1.pdf

Variable clinical features and genotype-phenotype correlations in 18 patients with late-onset Pompe disease.

Alandy-Dy J et al.

Annals of Translational Medicine, 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."