Varaico: Literature-Extracted Genetic Variants

Gene:GLB1
Variant:p.K66E
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GLB1

NM_000404.4:p.K66E

Associated Papers

A GLB1 transgene with enhanced therapeutic potential for the preclinical development of ex-vivo gene therapy to treat mucopolysaccharidosis type IVB.

Crippa S et al.

Molecular Therapy. Methods & Clinical Development, 2024

Promoter recognition by a complex of Spx and the C-terminal domain of the RNA polymerase alpha subunit.

Nakano MM et al.

Plos One, 2010

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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."