Varaico: Literature-Extracted Genetic Variants

Gene:GJC2
Variant:p.T58_D64delFs
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GJC2

NM_020435.4:p.T58_D64delFs

Associated Papers

PLP1 splicing abnormalities identified in Pelizaeus-Merzbacher disease and SPG2 fibroblasts are associated with different types of mutations.

Bonnet-Dupeyron MN et al.

Human Mutation, 2008

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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."