Varaico: Literature-Extracted Genetic Variants

Gene:KCNA5
Variant:p.I443V
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KCNA5

NM_002234.4:p.I443V

Associated Papers

Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.

Tarnovskaya SI et al.

International Journal of Molecular Sciences, 2025

40724807 (PubMed )
Supplement: ijms-26-06561-s001.zip › ijms-3705358_SupplementaryTable1.xlsx › SupplementaryTable1_upd

Whole-exome sequencing for variant discovery in blepharospasm.

Tian J et al.

Molecular Genetics & Genomic Medicine, 2018

29770609 (PubMed )
Supplement: MGG3-6-601-s002.pdf
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