Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.I28L
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GJB1

NM_000166.6:p.I28L

Associated Papers

Multiple pathways in the trafficking and assembly of connexin 26, 32 and 43 into gap junction intercellular communication channels.

Martin PE et al.

Journal of Cell Science, 2001

Gap junction assembly: multiple connexin fluorophores identify complex trafficking pathways.

Martin PE et al.

Cell Communication & Adhesion, 2001

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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."