Varaico: Literature-Extracted Genetic Variants

Gene:PEX7
Variant:p.G291ins1
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PEX7

NM_000288.4:p.G291ins1

Associated Papers

In vitro and in vivo plasmalogen replacement evaluations in rhizomelic chrondrodysplasia punctata and Pelizaeus-Merzbacher disease using PPI-1011, an ether lipid plasmalogen precursor.

Wood PL et al.

Lipids in Health and Disease, 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."