Varaico: Literature-Extracted Genetic Variants

Gene:SMS
Variant:p.M35R
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SMS

NM_004595.5:p.M35R

Associated Papers

Structural Insights into the Mechanisms Underlying Polyaminopathies.

Wu B et al.

International Journal of Molecular Sciences, 2024

Snyder-Robinson syndrome presenting with learning disability, epilepsy, and osteoporosis: a novel SMS gene variant.

Leung M et al.

Rare (amsterdam, Netherlands), 2024

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

Li C et al.

Nature Communications, 2017

Revealing the Effects of Missense Mutations Causing Snyder-Robinson Syndrome on the Stability and Dimerization of Spermine Synthase.

Peng Y et al.

International Journal of Molecular Sciences, 2016

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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."