Varaico: Literature-Extracted Genetic Variants

Gene:IMPDH2
Variant:p.L245P
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IMPDH2

NM_000884.3:p.L245P

Associated Papers

Purine Metabolism and Dystonia: Perspectives of a Long-Promised Relationship.

Sorrentino U et al.

Annals of Neurology, 2025

Neurodevelopmental disorder mutations in the purine biosynthetic enzyme IMPDH2 disrupt its allosteric regulation.

O'Neill AG et al.

The Journal of Biological Chemistry, 2023

Point mutations in IMPDH2 which cause early-onset neurodevelopmental disorders disrupt enzyme regulation and filament structure.

O'Neill AG et al.

Biorxiv : the Preprint Server for Biology, 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."