Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A3
Variant:p.V326delFs
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SLC12A3

NM_001126108.2:p.V326delFs

Associated Papers

Review and Analysis of Two Gitelman Syndrome Pedigrees Complicated with Proteinuria or Hashimoto's Thyroiditis Caused by Compound Heterozygous SLC12A3 Mutations.

Zhang JH et al.

Biomed Research International, 2021

Characteristics and Follow-Up of 13 pedigrees with Gitelman syndrome.

Zhong F et al.

Journal of Endocrinological Investigation, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."