Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.Y354delFs
Back to variants list

GAA

NM_000152.5:p.Y354delFs

Associated Papers

Biochemical and Genetic Testing of GAA in Over 30.000 Symptomatic Patients Suspected to Be Affected With Pompe Disease.

Balendran-Braun S et al.

Human Mutation, 2024

40225932 (PubMed )
Supplement: 6248437.f2.xlsx › Supplementary_Table_S2

A challenging etiology of myopathy: The late-onset Pompe disease.

Yüce İnel T et al.

European Journal of Rheumatology, 2023

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."