Varaico: Literature-Extracted Genetic Variants

Gene:SMS
Variant:p.V132G
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SMS

NM_004595.5:p.V132G

Associated Papers

Spermine synthase in Snyder-Robinson syndrome and cancer.

Yerlikaya A

Molecular Biology Reports, 2025

Structural Insights into the Mechanisms Underlying Polyaminopathies.

Wu B et al.

International Journal of Molecular Sciences, 2024

Difluoromethylornithine rebalances aberrant polyamine ratios in Snyder-Robinson syndrome: mechanism of action and therapeutic potential.

Stewart TRM et al.

Biorxiv : the Preprint Server for Biology, 2023

Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome.

Li C et al.

Nature Communications, 2017

Enhancing human spermine synthase activity by engineered mutations.

Zhang Z et al.

Plos Computational Biology, 2013

Spermine synthase deficiency resulting in X-linked intellectual disability (Snyder-Robinson syndrome).

Schwartz CE et al.

Methods in Molecular Biology (clifton, N.j.), 2011

Spermine synthase.

Pegg AE et al.

Cellular and Molecular Life Sciences : Cmls, 2010

A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome.

Becerra-Solano LE et al.

American Journal of Medical Genetics. Part A, 2009

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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."