Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.S735L
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KCNH2

NM_000238.4:p.S735L

Associated Papers

Achieving high-sensitivity for clinical applications using augmented exome sequencing.

Patwardhan A et al.

Genome Medicine, 2015

26269718 (PubMed )
Supplement: 13073_2015_197_MOESM8_ESM.xlsx › Sheet1

Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome.

Anderson CL et al.

Nature Communications, 2014

Gene sequencing in neonates and infants with the long QT syndrome.

Shim SH et al.

Genetic Testing, 2005

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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."