Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.D767delFs
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KCNH2

NM_000238.4:p.D767delFs

Associated Papers

A fast and cost-effective molecular diagnostic tool for genetic diseases involved in sudden cardiac death.

Chanavat V et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016

Evaluation of a new high-throughput next-generation sequencing method based on a custom AmpliSeq™ library and ion torrent PGM™ sequencing for the rapid detection of genetic variations in long QT syndrome.

Millat G et al.

Molecular Diagnosis & Therapy, 2014

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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."