Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.Q283*
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SDS

NM_006843.3:p.Q283*

Associated Papers

Analysis of sequence variability in the pig CART gene and association of polymorphism with fatness traits in a F2 population.

Zhu X et al.

Molecular Biology Reports, 2014

Characterization of regions in hsMAD1 needed for binding hsMAD2. A polymorphic change in an hsMAD1 leucine zipper affects MAD1-MAD2 interaction and spindle checkpoint function.

Iwanaga Y et al.

The Journal of Biological Chemistry, 2002

Missense mutations in the human glutathione synthetase gene result in severe metabolic acidosis, 5-oxoprolinuria, hemolytic anemia and neurological dysfunction.

Dahl N et al.

Human Molecular Genetics, 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."