Varaico: Literature-Extracted Genetic Variants

Gene:GJC2
Variant:p.E50G
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GJC2

NM_020435.4:p.E50G

Associated Papers

Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications.

Shimojima K et al.

Brain & Development, 2010

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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."