Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.C122fs
Back to variants list

KCNQ1

NM_000218.3:p.C122fs

Associated Papers

Secondary findings in a large Pakistani cohort tested with whole genome sequencing.

Skrahin A et al.

Life Science Alliance, 2023

36635046 (PubMed )
Supplement: LSA-2022-01673_TableS1.xlsx › Sheet1

Clinical and functional characterisation of a recurrent KCNQ1 variant in the Belgian population.

Sieliwonczyk E et al.

Orphanet Journal of Rare Diseases, 2023

36721196 (PubMed )
Supplement: 13023_2023_2618_MOESM2_ESM.docx

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

Compound and heterozygous mutations of KCNQ1 in long QT syndrome with familial history of unexplained sudden death: Identified by analysis of whole exome sequencing and predisposing genes.

Lin Y et al.

Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc, 2020

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."