Varaico: Literature-Extracted Genetic Variants

Gene:GBA2
Variant:p.W236C
Back to variants list

GBA2

NM_020944.3:p.W236C

Associated Papers

Glucosylceramide synthase inhibition with lucerastat lowers globotriaosylceramide and lysosome staining in cultured fibroblasts from Fabry patients with different mutation types.

Welford RWD et al.

Human Molecular Genetics, 2018

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."