Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.D419H
Back to variants list

GBA1

NM_000157.4:p.D419H

Associated Papers

A perspective on research, diagnosis, and management of lysosomal storage disorders in Colombia.

Puentes-Tellez MA et al.

Heliyon, 2020

Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation.

Sheth J et al.

Bmc Medical Genetics, 2019

Gaucher disease in Colombia: mutation identification and comparison to other Hispanic populations.

Pomponio RJ et al.

Molecular Genetics and Metabolism, 2005

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."