Varaico: Literature-Extracted Genetic Variants

Gene:KCNA5
Variant:p.V259I
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KCNA5

NM_002234.4:p.V259I

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

Generation of patient-specific induced pluripotent stem cells (ZZUSAHi001-A) derived from a familial atrial fibrillation patient carrying KCNA5 c.775G>A mutation.

Niu S et al.

Stem Cell Research, 2020

Whole-exome sequencing identifies a missense mutation in hnRNPA1 in a family with flail arm ALS.

Liu Q et al.

Neurology, 2016

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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."