Varaico: Literature-Extracted Genetic Variants

Gene:ADSL
Variant:p.L423V
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ADSL

NM_000026.4:p.L423V

Associated Papers

Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum.

Donti TR et al.

Molecular Genetics and Metabolism Reports, 2016

27504266 (PubMed )
Supplement: mmc1.pdf

Inhibition of defective adenylosuccinate lyase by HNE: a neurological disease that may be affected by oxidative stress.

Crifò C et al.

Biofactors (oxford, England), 2005

Adenylosuccinate lyase deficiency.

Spiegel EK et al.

Molecular Genetics and Metabolism, 0

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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."