Varaico: Literature-Extracted Genetic Variants

Gene:GLB1
Variant:p.Y270F
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GLB1

NM_000404.4:p.Y270F

Associated Papers

GM1 Gangliosidosis-A Mini-Review.

Nicoli ER et al.

Frontiers in Genetics, 2021

Epidemiology of mucopolysaccharidoses.

Khan SA et al.

Molecular Genetics and Metabolism, 2017

Beta-galactosidase deficiencies and novel GLB1 mutations in three Chinese patients with Morquio B disease or GM1 gangliosidosis.

Lei HL et al.

World Journal of Pediatrics : Wjp, 2012

[GLB1 gene mutation and clinical characteristics of a patient with mucopolysaccharidosis type IVB].

Lei HL et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2012

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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."