Varaico: Literature-Extracted Genetic Variants

Gene:ADSL
Variant:p.I369L
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ADSL

NM_000026.4:p.I369L

Associated Papers

Novel features in the evolution of adenylosuccinate lyase deficiency.

Pérez-Dueñas B et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2012

Study of inborn errors of metabolism in urine from patients with unexplained mental retardation.

Sempere A et al.

Journal of Inherited Metabolic Disease, 2010

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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."