Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.Q286R
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SDS

NM_006843.3:p.Q286R

Associated Papers

Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria.

Engel K et al.

Journal of Inherited Metabolic Disease, 2012

Functional complementation in yeast allows molecular characterization of missense argininosuccinate lyase mutations.

Trevisson E et al.

The Journal of Biological Chemistry, 2009

Alteration of substrate specificity of cholesterol oxidase from Streptomyces sp. by site-directed mutagenesis.

Toyama M et al.

Protein Engineering, 2002

Intragenic complementation at the argininosuccinate lyase locus: reconstruction of the active site.

Howell PL et al.

Journal of Inherited Metabolic Disease, 1998

Intragenic complementation at the human argininosuccinate lyase locus. Identification of the major complementing alleles.

Walker DC et al.

The Journal of Biological Chemistry, 1997

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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."