Varaico: Literature-Extracted Genetic Variants

Gene:GLB1
Variant:p.Y57*
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GLB1

NM_000404.4:p.Y57*

Associated Papers

Gene therapy approaches for GM1 gangliosidosis: Focus on animal and cellular studies.

Hosseini K et al.

Cell Biochemistry and Function, 2023

GM1 Gangliosidosis-A Mini-Review.

Nicoli ER et al.

Frontiers in Genetics, 2021

Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia.

Alfadhel M et al.

Orphanet Journal of Rare Diseases, 2016

Fibroblast screening for chaperone therapy in beta-galactosidosis.

Iwasaki H et al.

Brain & Development, 2006

Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis.

Georgiou T et al.

Human Mutation, 2004

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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."