Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.L619F
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KCNQ1

NM_000218.3:p.L619F

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 › S13

Predicting changes to INa from missense mutations in human SCN5A.

Clerx M et al.

Scientific Reports, 2018

30143662 (PubMed )
Supplement: 41598_2018_30577_MOESM1_ESM.pdf

SCN5A channelopathies--an update on mutations and mechanisms.

Zimmer T et al.

Progress in Biophysics and Molecular Biology, 0

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