Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.D286G
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KCNQ1

NM_000218.3:p.D286G

Associated Papers

The Yield of Genetic Testing and Putative Genetic Factors of Disease Heterogeneity in Long QT Syndrome Patients.

Bukaeva A et al.

International Journal of Molecular Sciences, 2024

A novel KCNQ4 gene variant (c.857A>G; p.Tyr286Cys) in an extended family with non‑syndromic deafness 2A.

Li Q et al.

Molecular Medicine Reports, 2021

Whole-exome sequencing identifies two novel mutations in KCNQ4 in individuals with nonsyndromic hearing loss.

Jung J et al.

Scientific Reports, 2018

30413759 (PubMed )
Supplement: 41598_2018_34876_MOESM1_ESM.pdf
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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."