Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.C64R
Back to variants list

KCNH2

NM_000238.4:p.C64R

Associated Papers

Multiplexed Assays of Variant Effect and Automated Patch-clamping Improve KCNH2-LQTS Variant Classification and Cardiac Event Risk Stratification.

O'Neill MJ et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

38370760 (PubMed )
Supplement: media-2.xlsx › Table_S5

Impact of Updated Diagnostic Criteria for Long QT Syndrome on Clinical Detection of Diseased Patients: Results From a Study of Patients Carrying Gene Mutations.

Hayashi K et al.

Jacc. Clinical Electrophysiology, 2016

Deep resequencing of the voltage-gated potassium channel subunit KCNE3 gene in chronic tinnitus.

Sand PG et al.

Behavioral and Brain Functions : Bbf, 2011

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."