Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.F450I
Back to variants list

GBA1

NM_000157.4:p.F450I

Associated Papers

Clinical Variability and Genotype-Phenotype Correlation in Spanish Patients with Type 1 Gaucher Disease: A Focus on Non-c.[1226A>G]; [1448T>C] Genotypes.

Serrano-Gonzalo I et al.

International Journal of Molecular Sciences, 2025

Proinflammatory and proosteoclastogenic potential of peripheral blood mononuclear cells from Gaucher patients: Implication for bone pathology.

Mucci JM et al.

Blood Cells, Molecules & Diseases, 2015

Hematologically important mutations: Gaucher disease.

Beutler E 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."