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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GJD2

Variant:p.C55S

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GJD2

NM_020660.3:p.C55S

hg38:chr15:34753280 C>G

Associated Papers

Intralumenal docking of connexin 36 channels in the ER isolates mistrafficked protein.

Tetenborg S et al.

The Journal of Biological Chemistry, 2023

37742923 (PubMed )

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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."