Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A3
Variant:p.I360T
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SLC12A3

NM_001126108.2:p.I360T

Associated Papers

The Post-Translational Modification Networking in WNK-Centric Hypertension Regulation and Electrolyte Homeostasis.

Lin SC et al.

Biomedicines, 2022

Examination of the predicted prevalence of Gitelman syndrome by ethnicity based on genome databases.

Kondo A et al.

Scientific Reports, 2021

34373523 (PubMed )
Supplement: 41598_2021_95521_MOESM1_ESM.pdf

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Akhavanfard S et al.

Nature Communications, 2020

32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM23_ESM.xlsx › Supplementary_Data_20

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

Functionomics of NCC mutations in Gitelman syndrome using a novel mammalian cell-based activity assay.

Valdez-Flores MA et al.

American Journal of Physiology. Renal Physiology, 2016

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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."