Varaico: Literature-Extracted Genetic Variants

Gene:UAP1
Variant:p.A229T
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UAP1

NM_001324116.5:p.A229T

Associated Papers

The Hexosamine Biosynthesis Pathway: Regulation and Function.

Paneque A et al.

Genes, 2023

A missense mutation in a patient with developmental delay affects the activity and structure of the hexosamine biosynthetic pathway enzyme AGX1.

Chen X et al.

Febs Letters, 2021

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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."