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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KCNH2

Variant:p.D1037insFs

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KCNH2

NM_000238.4:p.D1037insFs

hg38:chr7:150947368 C>CG

Associated Papers

C-terminal HERG (LQT2) mutations disrupt IKr channel regulation through 14-3-3epsilon.

Choe CU et al.

Human Molecular Genetics, 2006

16923798 (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."