Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.T219A
Back to variants list

GBA1

NM_000157.4:p.T219A

Associated Papers

Use of Ambroxol as Therapy for Gaucher Disease.

Zhan X et al.

Jama Network Open, 2023

Three mutations of adult type 1 Gaucher disease found in a Chinese patient: A case report.

Du X et al.

Medicine, 2018

A Novel Functional Missense Mutation p.T219A in Type 1 Gaucher's Disease.

Liu LY et al.

Chinese Medical Journal, 2016

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."