Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.R835delFs
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KCNH2

NM_000238.4:p.R835delFs

Associated Papers

Identification of a novel pathogenic variant in KCNH2 in an Iranian family with long QT syndrome 2 by whole-exome sequencing.

Fazelifar AF et al.

Journal of Arrhythmia, 2023

Genetic modifiers of long-term survival in sickle cell anemia.

Wonkam A et al.

Clinical and Translational Medicine, 2020

32898326 (PubMed )
Supplement: CTM2-10-e152-s001.pdf

An uncommon clinical presentation of relapsing dilated cardiomyopathy with identification of sequence variations in MYNPC3, KCNH2 and mitochondrial tRNA cysteine.

Guillen Sacoto MJ et al.

Molecular Genetics and Metabolism Reports, 2015

Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory.

Lieve KV et al.

Genetic Testing and Molecular Biomarkers, 2013

23631430 (PubMed )
Supplement: sj-doc-1-gtm-10.1089_gtmb.2012.0118.doc
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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."