Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.S405T
Back to variants list

GBA1

NM_000157.4:p.S405T

Associated Papers

Assessment of liver and spleen stiffness and hepatic steatosis by transient elastography (Fibroscan®) in type 1 Gaucher disease: a single center case-control cohort study.

Mutlu U et al.

Orphanet Journal of Rare Diseases, 2026

Clinical Outcomes and Genetic Mutations in Turkish Patients with Type 1 Gaucher Disease: Insights from a Single-Center Study.

Çalışkan AR et al.

Journal of Personalized Medicine, 2025

Mutational Analysis and Genotype Investigation of Less Known Gaucher Mutations through Haplotype Analysis in Iranian Gaucher Patients.

Sardarpour N et al.

International Journal of Molecular and Cellular Medicine, 2023

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."