Varaico: Literature-Extracted Genetic Variants

Gene:SGSH
Variant:p.Q409R
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SGSH

NM_000199.5:p.Q409R

Associated Papers

Partial restoration of mutant enzyme homeostasis in three distinct lysosomal storage disease cell lines by altering calcium homeostasis.

Mu TW et al.

Plos Biology, 2008

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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."