Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.V476L
Back to variants list

KCNH2

NM_000238.4:p.V476L

Associated Papers

High-throughput screens identify genotype-specific therapeutics for channelopathies.

Egly CL et al.

Jci Insight, 2025

41026531 (PubMed )
Supplement: jciinsight-10-191697-s190.xlsx › Figure_6B

Primary diagnosis of atrioventricular pseudo-block in a neonate with definitive diagnosis of long QT syndrome: diagnostic considerations and therapeutic approaches.

Khorgami M et al.

International Journal of Emergency Medicine, 2025

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."