Varaico: Literature-Extracted Genetic Variants

Gene:EXT2
Variant:p.G248_G249insA
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EXT2

NM_000401.3:p.G248_G249insA

Associated Papers

A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG.

Delgado MA et al.

Scientific Reports, 2014

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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."