Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.L311P
Back to variants list

GLA

NM_000169.3:p.L311P

Associated Papers

Overexpression of VEGFα as a biomarker of endothelial dysfunction in aortic tissue of α-GAL-Tg/KO mice and its upregulation in the serum of patients with Fabry's disease.

Lund N et al.

Frontiers in Cardiovascular Medicine, 2024

Fabry disease in the Spanish population: observational study with detection of 77 patients.

Vieitez I et al.

Orphanet Journal of Rare Diseases, 2018

The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat.

Benjamin ER et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27657681 (PubMed )
Supplement: gim2016122x1.zip › Supplemental_Appendix_2_12152015.xlsx › Unknown
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."