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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KCNJ5

Variant:p.E288E

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KCNJ5

NM_000890.5:p.E288E

hg38:chr11:128912137 G>A

Associated Papers

Enhanced activity of variant phospholipase C-delta1 protein (R257H) detected in patients with coronary artery spasm.

Nakano T et al.

Circulation, 2002

11980680 (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."