Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.L324_G325insFs
Back to variants list

GLA

NM_000169.3:p.L324_G325insFs

Associated Papers

The role of genetics in neurodegenerative dementia: a large cohort study in South China.

Jiao B et al.

Npj Genomic Medicine, 2021

34389718 (PubMed )
Supplement: 41525_2021_235_MOESM1_ESM.docx

Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease.

Germain DP et al.

Journal of Medical Genetics, 2015

25795794 (PubMed )
Supplement: jmedgenet-2014-102797-s1.pdf

Fabry disease: twenty novel alpha-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypes.

Germain DP et al.

Molecular Medicine (cambridge, Mass.), 2002

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."