Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.V266M
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SDS

NM_006843.3:p.V266M

Associated Papers

Loss of stability and unfolding cooperativity in hPGK1 upon gradual structural perturbation of its N-terminal domain hydrophobic core.

Pacheco-García JL et al.

Scientific Reports, 2022

36229482 (PubMed )
Supplement: 41598_2022_22088_MOESM1_ESM.docx

The effect of human GATA4 gene mutations on the activity of target gonadal promoters.

Bouchard MF et al.

Journal of Molecular Endocrinology, 2009

Tissue expression and genomic sequences of rat N-acetyltransferases rNat1, rNat2, rNat3, and Functional characterization of a novel rNat3*2 genetic variant.

Walraven JM et al.

Toxicological Sciences : an Official Journal of the Society of Toxicology, 2007

New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome.

Engel AG et al.

Human Molecular Genetics, 1996

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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."