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Article

Heterozygosity for a Pathogenic Variant in SLC12A3 That Causes Autosomal Recessive Gitelman Syndrome Is Associated with Lower Serum Potassium.

Journal of the American Society of Nephrology : JASN - 1 Mar 2021

Wan Xuesi, Perry James, Zhang Haichen, Jin Feng, Ryan Kathleen A, Van Hout Cristopher, Reid Jeffrey, Overton John, Baras Aris, Han Zhe, Streeten Elizabeth, Li Yanbing, Mitchell Braxton D, Shuldiner Alan R, Fu Mao

Abstract excerpt

BACKGROUND: Potassium levels regulate multiple physiologic processes. The heritability of serum potassium level is moderate, with published estimates varying from 17% to 60%, suggesting genetic influences. However, the genetic determinants of potassium levels are not generally known. METHODS: A whole-exome sequencing association study of serum potassium levels in 5812 subjects of the Old Order Amish was...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 33542107
DOI: 10.1681/ASN.2020071030
PMCID: PMC7920171

Genes

SLC12A3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Heterozygosity for a Pathogenic Variant in SLC12A3 That Causes Autosomal Recessive Gitelman Syndrome Is Associated with Lower Serum Potassium.PMID 33542107Read ↗

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