Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.V333V
Back to variants list

GBA1

NM_000157.4:p.V333V

Associated Papers

Two novel mutations in glucocerebrosidase, C23W and IVS7-1 G>A, identified in Type 1 Gaucher patients heterozygous for N370S.

Jack A et al.

Gene, 2014

Genetic and clinical features of patients with Gaucher disease in Hungary.

Erdos M et al.

Blood Cells, Molecules & Diseases, 0

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."