Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.K598_V599Splc
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KCNQ1

NM_000218.3:p.K598_V599Splc

Associated Papers

Screening for germline KCNQ1 and KCNE2 mutations in a set of somatotropinoma patients.

Iivonen AP et al.

Endocrine Connections, 2018

29703730 (PubMed )
Supplement: ec-7-645-t002.pdf

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

Sudden infant death syndrome and long QT syndrome: an epidemiological and genetic study.

Wedekind H et al.

International Journal of Legal Medicine, 2006

Association of KCNQ1, KCNE1, KCNH2 and SCN5A polymorphisms with QTc interval length in a healthy population.

Gouas L et al.

European Journal of Human Genetics : Ejhg, 2005

Single nucleotide polymorphism map of five long-QT genes.

Aydin A et al.

Journal of Molecular Medicine (berlin, Germany), 2005

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

Jongbloed R 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."