Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A3
Variant:p.L170Q
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SLC12A3

NM_001126108.2:p.L170Q

Associated Papers

Case report: Two novel compound heterozygous variant of SLC12A3 gene in a gitelman syndrome family and literature review.

Ji X et al.

Frontiers in Genetics, 2024

Genetic Analysis of SLC12A3 Gene in Chinese Patients with Gitelman Syndrome.

Zeng Y et al.

Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2019

Hypokalemia, hypomagnesemia, hypocalciuria, and recurrent tetany: Gitelman syndrome in a Chinese pedigree and literature review.

Xia MF et al.

Clinical Case Reports, 2017

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