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Paper Details

Heterozygosity for a Pathogenic Variant in <i>SLC12A3</i> That Causes Autosomal Recessive Gitelman Syndrome Is Associated with Lower Serum Potassium.
J Am Soc Nephrol
9
2021
16q13, Autosomal Recessive Gitelman Syndrome, Gitelman syndrome, Potassium, R642G, SLC12A3, autosomal recessive Gitelman syndrome, bone fractures, chloride, p., p.R642G, p.R642G SLC12A3, potassium, sodium

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Release 1.2