Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.Q530_Q531Splc
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KCNQ1

NM_000218.3:p.Q530_Q531Splc

Associated Papers

Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.

Vashisht S et al.

Bmc Genomics, 2025

39838281 (PubMed )
Supplement: 12864_2025_11232_MOESM6_ESM.xlsx › Sheet1

Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy.

Lopes LR et al.

Heart (british Cardiac Society), 2015

25351510 (PubMed )
Supplement: heartjnl-2014-306387-s2.pdf
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