Varaico: Literature-Extracted Genetic Variants

Gene:GLB1
Variant:p.L5insFs
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GLB1

NM_000404.4:p.L5insFs

Associated Papers

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

A Korean patient with Morquio B disease with a novel c.13_14insA mutation in the GLB1 gene.

Sohn YB et al.

Annals of Clinical and Laboratory Science, 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."