Varaico: Literature-Extracted Genetic Variants

Gene:PHB2
Variant:p.G56S
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PHB2

NM_001144831.2:p.G56S

Associated Papers

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

Schwartz CE et al.

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

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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."