Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.R1033fs
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KCNH2

NM_000238.4:p.R1033fs

Associated Papers

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.

Walsh R et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

32893267 (PubMed )
Supplement: 41436_2020_946_MOESM2_ESM.xlsx › S4

Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.

Najafi A et al.

Clinical Genetics, 2020

31506931 (PubMed )
Supplement: CGE-97-235-s002.xlsx › All_variants_annotated

Clinical and genetic features of Australian families with long QT syndrome: A registry-based study.

Burns C et al.

Journal of Arrhythmia, 2016

27920829 (PubMed )
Supplement: mmc2.docx
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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."