Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.Y216fs
Back to variants list

GLA

NM_000169.3:p.Y216fs

Associated Papers

Disrupted synaptic gene expression in Fabry disease: Findings from RNA sequencing.

López-Valverde L et al.

Neurobiology of Disease, 2025

Characterization of the plasma proteomic profile of Fabry disease: Potential sex- and clinical phenotype-specific biomarkers.

López-Valverde L et al.

Translational Research : the Journal of Laboratory and Clinical Medicine, 2024

Inhibition of Intermediate-Conductance Calcium-Activated K Channel (KCa3.1) and Fibroblast Mitogenesis by α-Linolenic Acid and Alterations of Channel Expression in the Lysosomal Storage Disorders, Fabry Disease, and Niemann Pick C.

Oliván-Viguera A et al.

Frontiers in Physiology, 2017

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."