Varaico: Literature-Extracted Genetic Variants

Gene:KRT34
Variant:p.N370S
Back to variants list

KRT34

NM_001386014.1:p.N370S

Associated Papers

pH-Responsive Trihydroxylated Piperidines Rescue The Glucocerebrosidase Activity in Human Fibroblasts Bearing The Neuronopathic Gaucher-Related L444P/L444P Mutations in GBA1 Gene.

Davighi MG et al.

Chembiochem : a European Journal of Chemical Biology, 2024

X-ray structure of human acid-beta-glucosidase, the defective enzyme in Gaucher disease.

Dvir H et al.

Embo Reports, 2003

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."