Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.Y402C
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GBA1

NM_000157.4:p.Y402C

Associated Papers

Genotypes and phenotypes in 20 Chinese patients with type 2 Gaucher disease.

Kang L et al.

Brain & Development, 2018

Clinical and molecular characteristics of patients with Gaucher disease in Southern China.

Feng Y et al.

Blood Cells, Molecules & Diseases, 2018

The clinical management of Type 2 Gaucher disease.

Weiss K et al.

Molecular Genetics and Metabolism, 2015

Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).

Hruska KS et al.

Human Mutation, 2008

Gaucher disease among Chinese patients: review on genotype/phenotype correlation from 29 patients and identification of novel and rare alleles.

Choy FY et al.

Blood Cells, Molecules & Diseases, 0

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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."