Varaico: Literature-Extracted Genetic Variants

Gene:SGSH
Variant:p.P356R
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SGSH

NM_000199.5:p.P356R

Associated Papers

FOXD1 mutations are related to repeated implantation failure, intra-uterine growth restriction and preeclampsia.

Quintero-Ronderos P et al.

Molecular Medicine (cambridge, Mass.), 2019

Intracellular transport of human lysosomal alpha-mannosidase and alpha-mannosidosis-related mutants.

Hansen G et al.

The Biochemical Journal, 2004

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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."