Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.H8Y
Back to variants list

SDS

NM_006843.3:p.H8Y

Associated Papers

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

Ohlenbusch A et al.

Orphanet Journal of Rare Diseases, 2012

Structure-function analysis of FLT3 ligand-FLT3 receptor interactions using a rapid functional screen.

Graddis TJ et al.

The Journal of Biological Chemistry, 1998

Protein engineering studies of dichloromethane dehalogenase/glutathione S-transferase from Methylophilus sp. strain DM11. Ser12 but not Tyr6 is required for enzyme activity.

Vuilleumier S et al.

European Journal of Biochemistry, 1996

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."