Varaico: Literature-Extracted Genetic Variants

Gene:ADSL
Variant:p.N297ins0
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ADSL

NM_000026.4:p.N297ins0

Associated Papers

Adenylosuccinate lyase deficiency.

Jurecka A et al.

Journal of Inherited Metabolic Disease, 2015

Early diagnosis of adenylosuccinate lyase deficiency using a high-throughput screening method and a trial of oral S-adenosyl-l-methionine as a treatment method.

van Werkhoven MA et al.

Developmental Medicine and Child Neurology, 2013

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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."