Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.S291S
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KCNQ1

NM_000218.3:p.S291S

Associated Papers

[The mechanistic rote of KCNH2 gene L413P and L559H mutations in long QT syndrome].

Li CL et al.

Zhonghua Nei Ke Za Zhi, 2007

[Novel mutations of potassium channel KCNQ1 S145L and KCNH2 Y475C genes in Chinese pedigrees of long QT syndrome].

Liu WL et al.

Zhonghua Nei Ke Za Zhi, 2006

[Heterozygous mutation in KCNQ1 cause Jervell and Lange-Nielsen syndrome].

Liu WL et al.

Zhonghua Xin Xue Guan Bing Za Zhi, 2005

[The mutation scanning of KCNQ1 gene for 31 long QT syndrome families].

Li P et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2004

Mutation analysis of potassium channel genes KCNQ1 and KCNH2 in patients with long QT syndrome.

Liu W et al.

Chinese Medical Journal, 2003

KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population.

Liu W et al.

Human Mutation, 2002

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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."