Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A3
Variant:p.S350S
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SLC12A3

NM_001126108.2:p.S350S

Associated Papers

A missense variant in SLC12A3 gene enhances aberrant splicing causing Gitelman syndrome.

Law CY et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2025

The First Korean Case of SLC12A3 Aberrant Skipping of Two Exons Detected by RNA Splicing Analysis.

Ko K et al.

Case Reports in Nephrology and Dialysis, 0

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