Varaico: Literature-Extracted Genetic Variants

Gene:DYNAP
Variant:p.E130K
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DYNAP

NM_173629.3:p.E130K

Associated Papers

Missense mutation in mouse GALC mimics human gene defect and offers new insights into Krabbe disease.

Potter GB et al.

Human Molecular Genetics, 2013

Interaction of the Tim44 C-terminal domain with negatively charged phospholipids.

Marom M et al.

Biochemistry, 2009

DNA methylation in promoter regions of red cell membrane protein genes in healthy individuals and patients with hereditary membrane disorders.

Remus R et al.

International Journal of Hematology, 2005

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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."