Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.L520Q
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KCNH2

NM_000238.4:p.L520Q

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

Mutational spectrum of congenital long QT syndrome in Turkey; identification of 12 novel mutations across KCNQ1, KCNH2, SCN5A, KCNJ2, CACNA1C, and CALM1.

Akgun-Dogan O et al.

Journal of Cardiovascular Electrophysiology, 2022

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