Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.N278insFs
Back to variants list

GLA

NM_000169.3:p.N278insFs

Associated Papers

The Effect of Fabry Disease Therapy on Bone Mineral Density.

Aitken T et al.

Diseases (basel, Switzerland), 2024

38785757 (PubMed )
Supplement: diseases-12-00102-s001.zip › diseases-2921271-supplementary.pdf

Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes.

Ashton-Prolla P et al.

Journal of Investigative Medicine : the Official Publication of the American Federation for Clinical Research, 2000

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."