Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.L29F
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SDS

NM_006843.3:p.L29F

Associated Papers

Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia.

Grau T et al.

Human Molecular Genetics, 2011

Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's disease.

Jansen GA et al.

Human Molecular Genetics, 2000

The mechanism of autooxidation of myoglobin.

Brantley RE et al.

The Journal of Biological Chemistry, 1993

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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."