Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.S649Splc
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KCNH2

NM_000238.4:p.S649Splc

Associated Papers

Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage.

Komor AC et al.

Nature, 2016

27096365 (PubMed )
Supplement: NIHMS774092-supplement-1.pdf

A KCNH2 branch point mutation causing aberrant splicing contributes to an explanation of genotype-negative long QT syndrome.

Crotti L et al.

Heart Rhythm, 2009

Intronic variants and splicing errors in cardiovascular diseases.

Vatta M

Heart Rhythm, 2009

Gene symbol: KCNH2. Disease: Long QT syndrome.

Crotti L et al.

Human Genetics, 2008

Gene symbol: KCNH2. Disease: Long QT syndrome.

Crotti L et al.

Human Genetics, 2008

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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."