Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.I158S
Back to variants list

GBA1

NM_000157.4:p.I158S

Associated Papers

Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1.

Miocić S et al.

Human Mutation, 2005

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."