Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.F199L
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GJA1

NM_000165.5:p.F199L

Associated Papers

Cytomembrane Trafficking Pathways of Connexin 26, 30, and 43.

Zong YJ et al.

International Journal of Molecular Sciences, 2023

Autoregulation of connexin43 gap junction formation by internally translated isoforms.

Smyth JW et al.

Cell Reports, 2013

Mutations in the second extracellular region of connexin 43 prevent localization to the plasma membrane, but do not affect its ability to suppress cell growth.

Olbina G et al.

Molecular Cancer Research : Mcr, 2003

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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."