Varaico: Literature-Extracted Genetic Variants

Gene:B4GALT1
Variant:p.P120S
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B4GALT1

NM_001497.4:p.P120S

Associated Papers

Aminoglycosides are efficient reagents to induce readthrough of premature termination codon in mutant B4GALNT1 genes found in families of hereditary spastic paraplegia.

Yesmin F et al.

Journal of Biochemistry, 2020

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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."