Varaico: Literature-Extracted Genetic Variants

Gene:GLB1
Variant:p.D198Y
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GLB1

NM_000404.4:p.D198Y

Associated Papers

Structure of the murine lysosomal multienzyme complex core.

Gorelik A et al.

Science Advances, 2021

GM1 Gangliosidosis-A Mini-Review.

Nicoli ER et al.

Frontiers in Genetics, 2021

Morquio-B disease: Clinical and genetic characteristics of a distinct GLB1-related dysostosis multiplex.

Abumansour IS et al.

Jimd Reports, 2020

SAAMP 2.0: An algorithm to predict genotype-phenotype correlation of lysosomal storage diseases.

Ou L et al.

Clinical Genetics, 2018

[Structural basis for β-galactosidase associated with lysosomal disease].

Shimizu T

Yakugaku Zasshi : Journal of the Pharmaceutical Society of Japan, 2013

GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.

Hofer D et al.

Human Mutation, 2009

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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."