Varaico: Literature-Extracted Genetic Variants

Gene:ADSL
Variant:p.A291V
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ADSL

NM_000026.4:p.A291V

Associated Papers

Inherent properties of adenylosuccinate lyase could explain S-Ado/SAICAr ratio due to homozygous R426H and R303C mutations.

Ray SP et al.

Biochimica Et Biophysica Acta, 2013

Genetic and metabolomic analysis of AdeD and AdeI mutants of de novo purine biosynthesis: cellular models of de novo purine biosynthesis deficiency disorders.

Duval N et al.

Molecular Genetics and Metabolism, 2013

Molecular characterization of the AdeI mutant of Chinese hamster ovary cells: a cellular model of adenylosuccinate lyase deficiency.

Vliet LK et al.

Molecular Genetics and Metabolism, 2011

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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."