Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.Y28*
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SDS

NM_006843.3:p.Y28*

Associated Papers

Clinical Phenotype Spectrum in Two Large Chinese Families With Rippling Muscle Disease Caused by CAV-3 c.80G>A.

Shen Y et al.

Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2025

Human CD4 Metastability Is a Function of the Allosteric Disulfide Bond in Domain 2.

Owen GR et al.

Biochemistry, 2016

Structural and biochemical characterization of free methionine-R-sulfoxide reductase from Neisseria meningitidis.

Gruez A et al.

The Journal of Biological Chemistry, 2010

Glucocorticoid receptor-like Zn(Cys)4 motifs in BslI restriction endonuclease.

Vanamee ES et al.

Journal of Molecular Biology, 2003

Contribution of disulfide bonds to the conformational stability and catalytic activity of ribonuclease A.

Klink TA et al.

European Journal of Biochemistry, 2000

Characterization of iduronate sulphatase mutants affecting N-glycosylation sites and the cysteine-84 residue.

Millat G et al.

The Biochemical Journal, 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."