Varaico: Literature-Extracted Genetic Variants

Gene:GJC2
Variant:p.H198H
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GJC2

NM_020435.4:p.H198H

Associated Papers

Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease.

Uhlenberg B et al.

American Journal of Human Genetics, 2004

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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."