Varaico: Literature-Extracted Genetic Variants

Gene:KCNMB1
Variant:p.A118T
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KCNMB1

NM_004137.4:p.A118T

Associated Papers

Single-nucleotide polymorphisms in vascular Ca2+-activated K+-channel genes and cardiovascular disease.

Köhler R

Pflugers Archiv : European Journal of Physiology, 2010

Common charge-shift mutation Glu65Lys in K+ channel β₁-Subunit KCNMB1: pleiotropic consequences for glomerular filtration rate and progressive renal disease.

Chen Y et al.

American Journal of Nephrology, 2010

E65 K polymorphism in KCNMB1 gene is not associated with ischaemic heart disease in Spanish patients.

Via M et al.

Journal of Human Genetics, 2005

Gain-of-function mutation in the KCNMB1 potassium channel subunit is associated with low prevalence of diastolic hypertension.

Fernández-Fernández JM et al.

The Journal of Clinical Investigation, 2004

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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."