Varaico: Literature-Extracted Genetic Variants

Gene:KCNA5
Variant:p.Y483fs
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KCNA5

NM_002234.4:p.Y483fs

Associated Papers

Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.

Machado RD et al.

Human Mutation, 2015

Early onset severe pulmonary arterial hypertension with 'two-hit' digenic mutations in both BMPR2 and KCNA5 genes.

Wang G et al.

International Journal of Cardiology, 2014

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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."