Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.I414fs
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KCNH2

NM_000238.4:p.I414fs

Associated Papers

A novel deletion-frameshift mutation in the S1 region of HERG gene in a Chinese family with long QT syndrome.

Gao Y et al.

Chinese Medical Journal, 2013

[Functional expression of congenital long QT syndrome related HERG mutation A561V in vitro].

Li Y et al.

Zhonghua Xin Xue Guan Bing Za Zhi, 2007

[Transmission disequilibrium analysis of 1137-1140 Del GTGA frameshift mutation within the KCNN3 gene and schizophrenia based on family trios].

Hong XH et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2005

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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."