Varaico: Literature-Extracted Genetic Variants

Gene:ABCC9
Variant:p.G814W
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ABCC9

NM_020297.4:p.G814W

Associated Papers

A novel ABCC9 variant in a Greek family with Cantu syndrome affecting multiple generations highlights the functional role of the SUR2B NBD1.

Gao J et al.

American Journal of Medical Genetics. Part A, 2024

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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."