Rare Single-Nucleotide Variants that Impact Human ENaC Function
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DOI: 10.1152/physiol.2023.38.s1.5733424
Abstract: While single-nucleotide variants (SNV) in ENaC coding region occur throughout functional domains, only a few SNVs exhibit pathophysiological phenotypes with mendelian inheritance. Since a SNV that alters ENaC’s ability to sense extracellular Na⁺ has been… read more here.
Keywords: function; enac; single nucleotide; physiology ... See more keywords