Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.A370A
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KCNQ1

NM_000218.3:p.A370A

Associated Papers

A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report.

Nishimura M et al.

Bmc Medical Genetics, 2017

28595573 (PubMed )
Supplement: 12881_2017_430_MOESM1_ESM.xlsx › Sheet1

Postmortem molecular analysis of KCNQ1, KCNH2, KCNE1 and KCNE2 genes in sudden unexplained nocturnal death syndrome in the Chinese Han population.

Liu C et al.

Forensic Science International, 2013

[KCNQ1, KCNH2, KCNE1 and KCNE2 potassium channels gene variants in sudden manhood death syndrome].

Zhao QH et al.

Fa Yi Xue Za Zhi, 2012

Development of a high resolution melting method for the detection of genetic variations in Long QT Syndrome.

Millat G et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2011

Single nucleotide polymorphisms and haplotype of four genes encoding cardiac ion channels in Chinese and their association with arrhythmia.

Zhang Y et al.

Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc, 2008

DHPLC analysis of potassium ion channel genes in congenital long QT syndrome.

Jongbloed R et al.

Human Mutation, 2002

Twenty single nucleotide polymorphisms (SNPs) and their allelic frequencies in four genes that are responsible for familial long QT syndrome in the Japanese population.

Iwasa H et al.

Journal of Human Genetics, 2000

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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."