Varaico: Literature-Extracted Genetic Variants

Gene:NBL1
Variant:p.E175D
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NBL1

NM_005380.8:p.E175D

Associated Papers

Mutations in the pore region modify epithelial sodium channel gating by shear stress.

Carattino MD et al.

The Journal of Biological Chemistry, 2005

Asymmetric organization of the pore region of the epithelial sodium channel.

Li J et al.

The Journal of Biological Chemistry, 2003

Subunit stoichiometry of the epithelial sodium channel.

Kosari F et al.

The Journal of Biological Chemistry, 1998

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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."