Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.W563_L564del2
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KCNH2

NM_000238.4:p.W563_L564del2

Associated Papers

Whole exome sequencing in Brugada and long QT syndromes revealed novel rare and potential pathogenic mutations related to the dysfunction of the cardiac sodium channel.

Chen J et al.

Orphanet Journal of Rare Diseases, 2022

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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."