Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.K344N
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KCNH2

NM_000238.4:p.K344N

Associated Papers

Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.

Splawski I et al.

Circulation, 2000

Splicing mutations in KCNQ1: a mutation hot spot at codon 344 that produces in frame transcripts.

Murray A et al.

Circulation, 1999

Genotype and clinical characteristics of congenital long QT syndrome in Thailand.

Saprungruang A et al.

Indian Pacing and Electrophysiology Journal, 0

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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."