Varaico: Literature-Extracted Genetic Variants

Gene:ADSL
Variant:p.T242I
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ADSL

NM_000026.4:p.T242I

Associated Papers

Magnetic resonance imaging of the brain in adenylosuccinate lyase deficiency: a report of seven cases and a review of the literature.

Jurecka A et al.

European Journal of Pediatrics, 2012

Biochemical and structural analysis of 14 mutant adsl enzyme complexes and correlation to phenotypic heterogeneity of adenylosuccinate lyase deficiency.

Zikanova M et al.

Human Mutation, 2010

Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency.

Jurecka A et al.

Molecular Genetics and Metabolism, 2008

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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."