Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.C57Y
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SDS

NM_006843.3:p.C57Y

Associated Papers

Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency.

Ohlenbusch A et al.

Orphanet Journal of Rare Diseases, 2012

Characterization of EndoTT, a novel single-stranded DNA-specific endonuclease from Thermoanaerobacter tengcongensis.

Zhang S et al.

Nucleic Acids Research, 2010

Mutational analyses of the metal ion and substrate binding sites of phosphorylase kinase gamma subunit.

Huang CY et al.

Biochemistry, 1994

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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."