Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.V151delFs
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KCNH2

NM_172057.3:p.V151delFs

Associated Papers

Single nucleotide deletion mutation of KCNH2 gene is responsible for LQT syndrome in a 3-generation Korean family.

Park JK et al.

Journal of Korean Medical Science, 2013

Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing.

Stattin EL et al.

Bmc Cardiovascular Disorders, 2012

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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."