Varaico: Literature-Extracted Genetic Variants

Gene:FBP1
Variant:p.S321F
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FBP1

NM_000507.4:p.S321F

Associated Papers

A novel variant in the FBP1 gene causes fructose-1,6-bisphosphatase deficiency through increased ubiquitination.

Liang X et al.

Archives of Biochemistry and Biophysics, 2023

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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."