Varaico: Literature-Extracted Genetic Variants

Gene:SMS
Variant:p.F58L
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SMS

NM_004595.5:p.F58L

Associated Papers

Strategies for in Silico Drug Discovery to Modulate Macromolecular Interactions Altered by Mutations.

Poudel P et al.

Frontiers in Bioscience (landmark Edition), 2025

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

Targeted next generation sequencing as a diagnostic tool in epileptic disorders.

Lemke JR et al.

Epilepsia, 2012

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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."