Varaico: Literature-Extracted Genetic Variants

Gene:GJC2
Variant:p.L281insFs
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GJC2

NM_020435.4:p.L281insFs

Associated Papers

Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like disease.

Meyer E et al.

Molecular Genetics and Metabolism, 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."