Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A3
Variant:p.L738R
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SLC12A3

NM_001126108.2:p.L738R

Associated Papers

Cryo-EM structure of the human sodium-chloride cotransporter NCC.

Nan J et al.

Science Advances, 2022

36351028 (PubMed )
Supplement: sciadv.add7176_sm.pdf

Clinical and Genetic Characterization of Patients with Bartter and Gitelman Syndrome.

Palazzo V et al.

International Journal of Molecular Sciences, 2022

35628451 (PubMed )
Supplement: ijms-23-05641-s001.zip › Palazzo_et_al_Supplementary.pdf

Gitelman's Syndrome: characterization of a novel c.1181G>A point mutation and functional classification of the known mutations.

Ravarotto V et al.

Hypertension Research : Official Journal of the Japanese Society of Hypertension, 2018

Gitelman's syndrome: towards genotype-phenotype correlations?

Riveira-Munoz E et al.

Pediatric Nephrology (berlin, Germany), 2007

Genetic analysis of Gitelman syndrome patients from the Czech Republic and Slovakia--three novel mutations found.

Urbanová M et al.

Kidney & Blood Pressure Research, 2006

Defective processing and expression of thiazide-sensitive Na-Cl cotransporter as a cause of Gitelman's syndrome.

Kunchaparty S et al.

The American Journal of Physiology, 1999

Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain.

Lemmink HH et al.

Kidney International, 1998

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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."