Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A3
Variant:p.I175F
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SLC12A3

NM_001126108.2:p.I175F

Associated Papers

Thiazide-sensitive Na+-Cl- cotransporter: genetic polymorphisms and human diseases.

Wang L et al.

Acta Biochimica Et Biophysica Sinica, 2015

Transcriptional and functional analyses of SLC12A3 mutations: new clues for the pathogenesis of Gitelman syndrome.

Riveira-Munoz E et al.

Journal of the American Society of Nephrology : Jasn, 2007

[Clinical significance of thiazide-sensitive Na-Cl cotransporter gene by mutational analysis].

Yasujima M

Rinsho Byori. the Japanese Journal of Clinical Pathology, 2007

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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."