Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A3
Variant:p.V326delFs
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SLC12A3

NM_001126108.2:p.V326delFs

Associated Papers

Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.

Yin X et al.

Nature Communications, 2025

40044664 (PubMed )
Supplement: 41467_2025_57520_MOESM5_ESM.xlsx › Supplementary_Data_2_Deleteriou

Spectrum of variants in a large Chinese Gitelman syndrome cohort.

Mou L et al.

Clinical Genetics, 2023

Clinical and Genetic Features in 31 Serial Chinese Children With Gitelman Syndrome.

Zhang L et al.

Frontiers in Pediatrics, 2021

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

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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."