Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.P1034fs
Back to variants list

KCNH2

NM_000238.4:p.P1034fs

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

[KCNH2 gene new mutation in a patient with prior diagnosis of epilepsy].

Chanséaume A et al.

Revue Neurologique, 2014

Mutation site dependent variability of cardiac events in Japanese LQT2 form of congenital long-QT syndrome.

Nagaoka I et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2008

Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.

Napolitano C et al.

Jama, 2005

Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

Tester DJ et al.

Heart Rhythm, 2005

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."