Varaico: Literature-Extracted Genetic Variants

Gene:SMS
Variant:p.P112A
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SMS

NM_004595.5:p.P112A

Associated Papers

Novel Hemizygous Missense Variant of Spermine Synthase (SMS) Gene Causes Snyder-Robinson Syndrome in a Four-Year-Old Boy.

Mouskou S et al.

Molecular Syndromology, 2021

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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."